Endocrinology - 2019 Updated!! Flashcards
(184 cards)
1
Q
In which of the following situations is growth hormone testing indicated:
a. All children below the 3 rd /5 th percentile
b. Children with growth velocity less than 6 cm/year
c. Children with a height is greater than 3 SD below the mean
A
c. Children with a height is greater than 3 SD below the mean
2
Q
Teenaged girl has decreased growth and weight gain, and goitre.
What is her specific diagnosis?
What test would you do that is specific to the diagnosis?
A
- Hypothyroidism, most common - hashimotos thyroiditis
- TSH and FT4
(Consider antiperoxidase antibodies)
3
Q
A 6y F has pubic and axillary hair. No other signs of puberty. Where should you look for pathology
a. Hypothalamus
b. Pituitary
c. Adrenals
d. Ovaries
A
c. Adrenals
If with normal growth rate, no clitoromegaly, penile growth, or testicular enlargement, from increased secretion of DHEA from adrenals. See normal HPG, FSH, LH, estradiol and testosterone and is typically benign.
4
Q
Child fatigued and tanned, K 5.2, Na 132, glucose 2.6, shocky, vomiting and has diarrhea. What is used to treat the underlying condition?
a. D5 0.25NS
b. nothing
c. NS 20 cc/kg
d. IV hydrocortisone
A
d. IV hydrocortisone
If the Q was next best: give a bolus
High K and low Na; shock + tan (melanocyte stimulating hormone - stimulated by ACTH production - is elevated) = Adrenal crisis
5
Q
Baby with hypoglycemia, name 10 bloodwork that needs to be done BEFORE treatment to diagnose the cause of the hypoglycaemia
A
Serum glucose Beta-hydroxybutyrate Venous blood gas Lactate Free fatty acids Growth hormone Cortisol Carnitine Acylcarnitine profile Insulin C peptide Serum Amino Acids Electrolytes (measure AG)
- urine ketones
- urine organic acids
6
Q
A child is suspected of having complete diabetes insipidus. What would support this diagnosis on water deprivation test?
a) urine osmolarity falls
b) urine osmolarity raises
c) serum osmolarity falls
d) serum osmolarity rises
A
Urine osmolarity rises
Goal of test is to deprive water until see high serum sodium level, then give desmopressin (ADH) to see if urine oslmols increase.
Urine oslmol will increase 50% in DI and just 10% in psychogenic pd
If not asking about ADH response then:
Serum oslmol will rise higher and faster in DI than PPD.
7
Q
6 yrs old obese and with oligomenorrhea (menses every 4-5 months). She has acne and hirsutism. You suspect PCO.
- What are 3 investigations to CONFIRM your diagnosis?
- What are 3 hormonal pharmacotherapy management for her menses?
- What are 2 long term complications of her symptoms?
A
PCOS is a clinical Dx
- Free T, Total T, FSH, LH
Dexamethasone androgen suppression test
Ultrasound - Combined OCP, Cyclic progestin, GnRH agonist (leuprolide)
- Infertility, Insulin resistance, metabolic syndrome
8
Q
Child with type 1 diabetes. Ate supper but missed pre-supper insulin (5R and 8N).
About to take evening snack.
Glucose 23.5. Mom calling for advice (4 lines).
A
- Check for ketones
- Drink fluids
- Give SA insulin with evening snack (with correction) with LA as previously Rx
- repeat BG in 1 hour,
- check glucose again at 0200h
9
Q
10 year old 30kg girl presents in DKA. PH<7.25, Glucose 40, 10 % dehydrated. Current sodium is 120.
What type of initial fluid would you give her?
What would be the rate?
What initial insulin dose/type would you start her on?
A
- Normal Saline Bolus
- 300 mL over 1 hour (10ml/kg bolus)
- Insulin (rapid acting) infusion 0.1 U/kg/h start 1-2 hours after IV fluid rehydration started = 3 units per hour
10
Q
A 1 week old female infant has ambiguous genitalia, vomiting and lethargy. Which of the following abnormalities are you likely to find on bloodwork:
a. Metabolic acidosis
b. Isolated hyperkalemia
c. Hypokalemia and metabolic alkalosis
d. Hyponatremia, hyperkalemia and metabolic alkalosis
A
a. Metabolic acidosis
Patients with salt-losing CAH disease have typical laboratory findings associated with cortisol and aldosterone deficiency, including: hyponatremia, hyperkalemia, metabolic acidosis, and, often, hypoglycemia
11
Q
6 year old girl with breast development, pubic hair development, advanced bone age of 10 years.
What two investigations do you do for the diagnosis?
A
LH, FSH, estradiol - confirm central precocious puberty
GnRH stim test
12
Q
14 yo female with BMI of 31. List 4 things that you should screen her for.
A
- T2DM: fasting glucose, or OGTT
- Hypertension
- Hyperlipidemia - fasting lipids
- Fatty Liver: Serum ALT, AUS
- OSA
- Depression/anxiety
- Vitamin D Deficiency
- Hypothyroidism (as cause)
- PCOS
- Cushings
13
Q
Name four autoimmune conditions associated with increased risk of developing celiac disease
A
T1DM
Autoimmune thyroiditis
Addison’s
Autoimmune hepatitis
14
Q
Tall boy with decreased carrying angle, delayed puberty, mild MR, broad pelvis.
a) Klinefelter
b) Noonan
A
a) Klinefelter : Have primary gonadal failure with delayed puberty Typically have tall stature with long limbs and a wide pelvis. Case reports of mitral prolapse
- Noonan is similar to Turner’s, has increased carrying angle
15
Q
Neonate with large tongue and hypoglycemia. What’s the diagnosis? What’s the pathophysiology of the hypoglycemia?
A
Beckwith-Wiedeman
Diffuse islet cell hyperplasia
16
Q
15 yo obese black male presents with polyuria, abdominal pain, and vomiting. Blood glucose is 40, bicarb 21,
and Ketone 1+. What is the most likely diagnosis?
a) DM1
b) DM2
c) Hypercortisolemia
A
b) DM2
Adolescents with T2DM may present with HHS, also referred to as hyperosmolar hyperglycemic nonketotic syndrome (HHNK)
- hyperglycaemia
- hyperosmolarity
- severe dehydration
- no ketones
17
Q
3 week old has hypocalcemia. Most likely diagnosis?
A
- transient hypoparathyroidism (due to natural fall)
18
Q
Conditions where there is a discrepancy between chronologic age and bone age
chronic granulomatous disease failure to thrive psychosocial deprivation malnutrition all of the above
A
All of the above:
19
Q
A girl presents with fever and hypoglycemia. On exam, you note a hyperpigmented tongue. What test will confirm your diagnosis?
a) Serum ACTH level
b) ACTH stimulation test
c) Morning serum cortisol
A
b) ACTH stimulation test - Confirmatory. Will have a suboptimal response due to adrenal destruction.
a) Serum ACTH level - Will be elevated in Addison’s
c) Morning serum cortisol - Will be low in Addisons
20
Q
Child with T1DM, fever and vomiting. Still drinking well. Glucose is 15 mmol and mom calls you before dinner. Her usual rapid insulin dose before dinner is 3. According to her sliding scale, she should get 5 units for this measurement. She receives NPH 8 units before bed, and 5 units of NPH, 4 units of rapid in the morning.
How much insulin would you recommend that she receive now? Show your calculations (3 marks)
A
Insulin Sensitivity Factor
ISF = 100/TDD
= 100/20 = 5 (one unit will drop BG by 5)
Correction: for target of 5, need to reduce by 10 mmol (units)
Give her usual 3 mmol plus 2 units correction = 5 units rapid with supper.
?! Sick day management -
21
Q
21 month old female presents with right sided breast swelling. SMR 2 on the left and SMR 3 on the right. She is 75th for height and weight. No secondary sexual characteristics. What is the next investigation?
Reassurance
Breast ultrasound
LHRH stim test
Abdominal ultrasound
A
Reassurance
22
Q
A child is referred to your practice for short stature. He is following the 3rd percentile for height. His father measures 171cm and his mother measures 155cm. What is your next step in management?
a) Measure serum IGF-1
b) Measure serum TSH
c) Measure tissue trans-glutaminase antibody
d) reassure the parents
A
d) reassure the parents
Midparent height = (155 + 171 + 13) / 2 = 169.5 cm +/- 5 cm
- need growth chart to see this
Any way - would start with BA
23
Q
27 mos girl bone age 17 mos, short stature. Graphs show N BW now 3rd for ht and wt
a constitutional
b familial
c growth hormone deficiency
d malnutrition
A
a constitutional
24
Q
Picture of growth curve tracking parallel but below 5 th percentile. Most likely:
a. Russel-Silver syndrome
b. constitutional growth delay
c. familial short stature
d. CF
e. chronic renal failure
A
c. familial short stature
- both the infant and the parents are small; growth runs parallel to and just below the normal curves; normal bone age
- constitutional growth delay (weight and height decrease near the end of infancy, parallel the norm through middle childhood, and accelerate toward the end of adolescence. Adult size is normal; delayed bone age compared to chronological)
25
10 year old girl with an enlarged thyroid, diffuse nontender. T4 6.6 TSH >50, thyroid antibodies positive. What is your next step in management?
1. Start methimazole
2. Order thyroid ultrasound
3. Order radionuclide scan
4. Start levothyroxine
4. Start levothyroxine
26
Skeletal findings in Rickets
Delayed closure of fontanelles
Parietal and frontal bossing
Craniotables (soft skull bones0
Enlargement of costrochondral junction - "rachitic rosary" on CXR
Harrison sulcus (groove) at lower margin of thorax
- widening at wrist
- bowing of distal radius and ulna
- progressive lateral bowing for femur and tibia
27
11m Kid with seizure. Ionized Ca 0.7 (low) P04 1.11 (?low).
1. What is the likely cause?
2. What 3 additional investigations would you do?
1. Vitamin D Deficiency or Hypoparathyroidism
2. Lytes, Mg,
PTH
Vitamin D (25-OH-D)
Albumin
ALP
Urin Ca:Cr
28
2 y.o that presents with premature thelarchy. Bone age 3 yrs, 3 mos. How will she progress to puberty?
a) Slow progression
b) Fast progression
c) Resolution at 3 yrs
c) Resolution at 3 yrs
Benign premature thelarche can present with bone age advanced in 30% of kids >2 years beyond chronologic age
29
A young child who comes to the ER with hypoglycemia. Improves very quickly and completely with IV dextrose. What would be in keeping with this diagnosis?
Urinary ketones
Inappropriately high insulin level
Failed ACTH stim test
Urinary ketones
Ketotic hypoglycaemia
30
A 12-year-old girl has a bone age of 11 years. All of the following might be expected EXCEPT:
a) menses
b) increased growth velocity
c) breast development
d) axillary hair
e) acne
a) menses
- stages of puberty (females): thelarche (breast bud development; 10-11 years) —> pubarche (pubic hair;
6-12 months later) —> increased growth velocity (always precedes menarche) —> menarche (2-2.5 years,
may be up to 6 years)
- stage of puberty is more accurately predicted by bone age than chronological age
31
Child with micropenis. Best test to determine sex of rearing
a. Y chromosome (karyotype)
b. testosterone level
c. hypospadias
d. palpable gonads
e. size of phallus
a. Y chromosome (karyotype)
Investigations for micropenis:
- karyotype
- assess pituitary function
- assess testicular function
- MRI (hypothalamic or pituitary lesions)
Micropenis - normally formed penis <2.5 SD below mean, stretched penile length <1.9cm
Appearance of external genitalia is rarely diagnositc of a particualr disorder
Most common forms of 46XX DSD are virilizing forms of CAH
32
16 year old girl with secondary amenorrhea. She was having normal periods since 13. She has not been on any medications.
1. What are 6 possible causes of her secondary amenorrhea
2. What are two tests that can help in the investigation
Secondary Amenorrhea - no menstration for length of 3 previous cycles in post menarche patient
Causes of secondary amenorrhea:
1. PCOS
2. Anorexia/weight loss
3. Pregnancy
4. Hyper/hypothyroidism
5. Prolactinoma
6. Premature Ovarian insufficiency (autoimmune, idiopathic, radiation, chemo)
7. Cushings
8. Stress
9. female athletic triad
10. Systemic disease (IBD, SCD, CF, Celiac)
Ix:
-beta-hCG, TSH, PRL, FSH, LH,
+/-ovarian U/S
33
```
8 year old, obese. Both parents with DM II. When to start screening?
a. At 10 years
b. At puberty
c . Now
d. Wait until additional risk factors
```
d. Wait until additional risk factors
Screen the following individuals every two years with fasting plasma glucose
Pubertal children with 2 or more of the following: OR
Pre-pubertal with 3 or more of the following :
- Obesity (BMI > 95th %ile)
- High risk population – (Aboriginal, Asian, Hispanic, South Asian or African descent)
- Family history of Type 2 diabetes and/or exposure to hyperglycemia in utero
- Signs or symptoms of insulin resistance (including acanthosis nigricans, hypertension, dyslipidemia, non alcoholic fatty liver)
34
9 year old girl has just had the onset of her first menses. Parents are concerned about her final height. What do you do?
a. Tell them that she will grow another 5 cm
b. calculate mid-parental height
c. do a karyotype
d. do a bone age
a. Tell them that she will grow another 5 cm
? We answered to do a bone age.
If menstruating at 9yrs, puberty probably started at 7. Unclear if other secondary sexual characteristics.
Linear growth decelerates after menarche - average ht gain after menarche is 7 cm, but more for girls to start menstruating earlier.
35
18 mo immigrant child from Somalia. Bowed legs and wide wrists. What does he have? X ray given of wrist. What 3 other clinical signs
1. Rickets
2. Rachetic Rosary, Craniotabes, frontal bossing, FTT, Delayed closure of fontanelle, Sternal groove, Hypotonia and delayed motor milestones, Dental enamel hypoplasia, seizures
36
Picture of a growth curve showing a 9 year old girl who has maintained the 25 th percentile for weight
from ages 3-9 years but who has fallen off the height curve from the 25 th percentile (from ages 3-7 years)
to below the 3 rd percentile (at 9 years). What is the most likely cause?
Hypothyroidism (most common endocrinopathy), could also be GH deficiency or Turners. Screen with TSH AND fT4
When growing normally and then height falls off while weight is preserved, think about and endocrinopathy. Constitutional delay, growth starts to slow at around 3 years
37
9-year-old girl with growth velocity 2 cm/yr for the past 2 years. Best diagnostic investigation:
a) TSH
b) CT head
c) AM and PM cortisol
d) nocturnal growth hormone level
ANSWER: a) TSH - hypothyroidism is the most common endocrinopathy
- lowest normal prepubertal growth is 5cm/year
Note: b) CT head - to assess for craniopharyngioma (growth pattern is a normally growing kid who growth then falls off but weight is preserved)
c) AM and PM cortisol - Cushing disease; would usually just screen with an AM cortisol
d) nocturnal growth hormone level - recommended test for GH deficiency is IGF-1 as a screen and then GH stimulation test
38
Hypoparathyroidism can be seen in all EXCEPT:
a) primary proximal renal tubular acidosis
b) vitamin D-deficient rickets
c) rickets with liver failure
d) rickets with anticonvulsants
b) vitamin D-deficient rickets - can mimic hypopara but there is no actual impact on parathyroid hormones or glands
39
McCune Albright question (description of girl with café o lait, short stature, etc.), what would you do? what are some typical presenting complaints of McCune-Albright?
A. NF1 testing,
B. endocrinopathy work up
B. endocrinopathy work up
Café-Au-Lait spots (coast of Maine - large, do not cross midline); fibrous dysplasia of bones; precocious puberty
endo findings: precocious puberty, hyperthyroid, hyperparathyroid, pitutary adenomas - increased GH, Cushing
40
What are the screening guidelines for children with type 1 diabetes:
When do you start screening for diabetic retinopathy?
When do you start screening for diabetic nephropathy?
What screening test do you do for nephropathy?
When do you screen for hyperlipidemia?
Retinopathy: yearly at
15 years or >5 years
Nephropathy: Yearly at
12 years or >5 years (urine albumin:creatinine)
Hyperlipidemia:
At 12years and 17 years
If <12 then only with BMI >97%ile, FHx, or premature CVD
HTN:
All children at least twice yearly
41
A 3 week old female presents with ambiguous genitalia, vomiting and lethargy. Which of the following tests do you recommend for diagnosis:
a. Aldosterone
b. 17-OHP
c. Cortisol
b. 17-OHP
CAH
42
Who should get GH studies?
a. Short kid with tall parents
b. All children below 3rd%ile
c. Children with > 3SD below the mean
d. Growth of 6cm/year
c. Children with > 3SD below the mean
Children with severe defects in GH production or action typically fall more than 4 SD below the mean for length by 1 year of age
43
Turner’s syndrome, name 5 future health problems
```
Premature ovarian failure
Short stature
Coarctation of the aorta
Celiac Disease
Hypothyroidism
ADHD
Recurrent OM
SNHL
HTN
Structural renal anomalies - UTIs
IBD
Hyperlipidemia
Developmental hip dysplasia
Scoliosis
Strabismus
```
44
A baby was found to have CPT2 deficiency on newborn screen. What do you advise?
a) continuous feeding
b) cornstarch overnight
C) frequent feedings
C) frequent feedings
Carnitine palmitoyltransferace deficiency type 2 = fatty acid oxidation defect
45
An 8 month old boy is referred for unilateral cryptorchidism Why is an orchidopexy recommended?
a) to prevent cancer
b) to allow for easier examination of the testis
c) to optimize fertility
c) to optimize fertility
46
A description is given of an early-adolescent girl who is overweight. She is wondering what her ideal
body weight should be.
BMI < 85%ile
| Could also look at weight for heigh graph - 50th percentile
47
6 year old Short child growing along the third. Bone age is 4 years. No change in his growth velocity. Otherwise well. Gaining weight normally. What is the cause of his short stature? Mom is 160 cm dad is 180 cm calculate the mid parental height.
1. cause: constitutional growth delay
| 2. MPH = 180+160+13/2 = 176.5cm
48
Mechanism of action for insulin:
a) glycogen synthesis
b) gluconeogenesis
c) lipolysis
d) ketogenesis
e) cAMP
a) glycogen synthesis
| gluconeogenesis triggered by glucagon
49
Which medication causes pseudoporphyria
a) naproxen
b) OCP
c) methotrexate
a) naproxen
which is characterized by small hypopigmented depressed scars occurring in areas of minor skin trauma, such as fingernail scratches. Pseudoporphyria is more likely to occur in fair-skinned individuals and on sun-exposed areas. If pseudoporphyria develops, the inciting NSAID should be discontinued because scars can persist for years or be permanent.
50
Lab abnormalities you may see in PCOS
High LH to FSH ratio - but not diagnostic criteria
Persistent T elevation
Insulin resistance
51
A patient with XY, androgen production, SRY and anti-mullerian hormone production will have what gender phenotype?
male
52
A baby with hypoglycemia needing GIR >10mg/kg/min
Please list 3 types of hypoglycemia that would have a normal GIR requirement and 3 needed a higher than normal GIR
```
Normal GIR:
Normal transitional hypoglycaemia
Inborn Error of Metabolsim
SGA/IUGR
Prolonged fasting
Prematurity
Panhypopit
Adrenal Insufficiency
Hypothyroid
```
```
Elevated GIR:
Hyperinsulinism
IDM
Beckwith-Weidemen
Hyperthyroidism
Birth asphyxia
Abrupt cessation of IV glucose
Exchange transfusion
Sepsis
```
53
Which is used to determine the initial dose of replacement therapy in lymphocytic thyroiditis:
a) TSH
b) T3
c) T4
d) free T4
e) thyroid antibodies
d) TSH
54
What lab test would most likely be elevated in a child with the genitalia pictured. – picture of
ambiguous genitalia, looked like female virilization.
1. sodium
2. potassium
3. cortisol
4. aldosterone
5. glucose
2. potassium
Cortisol - low
Aldosterone - low
Glucose - low
Sodium - low
55
For adolescent girls, which would be the most concerning in terms of height velocity
A. Tanner stage 2, growing 6cm/year
B. Tanner stage 3, growing 4cm/year
C. Tanner stage 4, growing 5cm/year
D. Tanner stage 5, growing 1cm/year
B. Tanner stage 3, growing 4cm/year
56
After discontinuing sources of vitamin D and Ca, what is your initial management of hypercalcemia?
Calcitonin
IVF
Furosemide
Pamidronate
IVF
(Nelsons)
Normal saline, with or without a loop diuretic, is often adequate for treating mild or moderate hypercalcemia. More significant hypercalcemia usually requires other therapies. Glucocorticoids decrease intestinal absorption of calcium by blocking the action of 1,25-D. There is also a decrease in the levels of 25-D and 1,25-D. The usual dosage of prednisone is 1-2 mg/kg/24 hr.
Calcitonin, which lowers calcium by inhibiting bone resorption, is a useful adjunct, but its effect is usually not dramatic. There is an excellent response to intravenous or oral bisphosphonates in vitamin D intoxication. Bisphosphonates inhibit bone resorption through their effects on osteoclasts. Hemodialysis using a low or 0 dialysate calcium can rapidly lower serum calcium in patients with severe hypercalcemia that is refractory to other measures.
57
Kid with midline defect of septo optic dysplasia presents shocky, mottled, normal wccc, glc, Na 138, K 6, After fluids what is your next Rx?
a) Abx
b) IV Hydrocortisone
c) hypotonic saline
b) IV Hydrocortisone (the point is adrenal crisis + midline defects; see below)
58
Vitamin D dependent Rickets, what will be low?
a. ALP
b. PTH
c. Vit 1-25 OH vitamin D
d. Vit 25 OH vitamin D
c. Vit 1-25 OH vitamin D
59
```
Kid presents with vaginal bleeding. You note she is Tanner 3, has cafe-au-lait patches and has a bump on her leg. Xray confirms fibrous dysplasia.
What do you look for?
a. neurofibromas
b. other endocrinopathies
c. cardiac echography
```
b. other endocrinopathies
McCune-Albright
- expect menarche with SMR 4
Classically: patchy cutaneous pigmentation (cafe au lait spots), fibrous dysplasia, peripheral precocious puberty
- Can also have: hyperthyroidism, Cushing syndrome, gigantism or acromegaly
60
Teenaged girl has decreased growth and weight gain, and goitre. What is her specific diagnosis? (1) What test
would you do that is specific to the diagnosis (1)?
1. Hypothyroidism, likely secondary to hashimoto thyroiditis
| 2. antiTPO antibodies
61
You are managing a child who presented to your emergency department in DKA. Suddenly she develops a
decreasing level of consciousness, and on CT scan there is cerebral edema noted.
a. Name 2 errors that you could have made in your management that would have contributed to this complication
b. Name 2 risk factors for this complication.
```
a. Over fluid rescuscitation
Hypotonic fluids
Rapid correction of glucose
Insulin boluses
Insulin started to soon
Use of bicarbonate
```
b. RF for cerebral edema:
- age <5 years
- new onset diabetes
- high initial urea
- low initial CO2
- peripheral hospital
(all of the above)
62
Delayed sexual behaviour in adolescence is associated with?
a) precocious puberty
b) poverty
c) sexual abuse
d) strict parenting
d) strict parenting
63
Babe with CAH. Likely clinical picture?
a . Non ambigious boy with low sodium and high K
b . Virilized boy
c. Virilized female with high sodium and high K
a . Non ambigious boy with low sodium and high K
64
15 year old with primary amenorrhea. Height is <5th and weight is below the 15th. After you ‘ve ruled out pregnancy, what are 3 tests you would do?
Karyotype - Assess for Turner Syndrome
TSH - Assess for thyroid dysfunction
FSH/LH - Assess for hypogonadism
Pelvic US - Assess for mullerian structures
65
Diabetic going to OR. NPO since midnight. BS is now 5. To get IV D5NS. What are your insulin orders?
a. Keep same NPH, R
b. Don’t give R, give 50% NPH
c. Give 50% of R, no NPH
b. Don’t give R, give 50% NPH
- important to give IV insulin infusion and fluids with dextrose in OR to prevent hypoglycaemia and DKA
- if have long acting basal (lentos) give regular dose the night before
- if use NPH/lente as basal then give half of usual dose the mooning of surgery
66
Which of the following investigations would you do in an 8 year old boy with the onset of puberty:
a. Cranial imaging
b. LH/FSH levels
c. Testicular ultrasound
b. LH/FSH levels
LH (basal in a.m.), FSH, either estradiol or testosterone (results help differentiate central and peripheral precocity)
- central puberty implies activation of HPG axis and therefore LH and FSH are high
- if central precocious puberty confirmed - get MRI
67
Parents with type 2 diabetes, concerned about testing their son, when to do this?
a) test right now
b) test at 10 years old
c) if there are other significant risk factors
d) puberty
c) if there are other significant risk factors– this is probably the best answer based on the info given
68
Obese teenager. What is she at risk for?
1. type 2 diabetes mellitus
2. delayed puberty
3. AVN of the femoral head
4. Thyroid problems
1. type 2 diabetes mellitus
69
A child is born with blind vaginal opening and micropenis. At puberty, he has normal puberty development and spermatogenesis…. What is the diagnosis?
a) Smith-Lemli- Opitz
b) 21-hydroxylase deficiency
c) 5-alpha reductase deficiency
d) androgen insensitivity syndrome
c) 5-alpha reductase deficiency
In puberty, phallus wil enlarge, testes will descend and grow normally and spermatogenesis will occur
Will have a small prostate and scant beard, no acne
AIS -
Appear F at birth, no uterus and blind vaginal pouch. Testes are usually intraabdominal but can come into the inguinal canal. Mostly seminiferous tubules
Adolescence: Often present with amenorrhea. Normal breast dev and body habitus, no menstruation or sexual hair. Usually height of normal males
Smith Lemli Opitz
AD
Deficit in cholesterol synthesis
Variable presentation, includes: microcephaly, ambiguous genitalia, ID, ASD, growth retardation, toe syndactyly, cleft palate
70
Girl has been drinking lots. Has low urine and serum Osm...
- Psychogenic polydipsia
- DKA (high)
- Central DI (high serum osm)
- Nephrogenic DI (high serum osm)
Psychogenic polydipsia
All the rest have high serum osmolarity
71
Female with enlarged thyroid mass, TSH normal, no symptoms what is next step
a. Ultrasound
b. Recheck in 6 months
c. biopsy
d. start synthroid
b. Recheck in 6 months
- US if there is a nodule
In a euthyroid patient, treatment with suppressive doses of levothyroxine is unlikely to lead to a significant decrease in size of the goiter
Prominent nodules (i.e., >1 cm) that persist despite suppressive therapy should be examined histologically using fine-needle aspiration, because thyroid carcinoma or lymphoma has occurred in patients with Hashimoto thyroiditis
72
Girl with delayed puberty, 14y, short stature, normal bone age.
a) turner
b) constitutional
c) GH deficiency
a) turner
Constitutional would have delayed BA. GH deficiency not a/w delayed puberty, BA would also be delayed.
73
What would be the difference between psychogenic polydipsia and diabetes insipidus?
1) Dilute urine
2) Diarrhea
3) Hypernatremia
3) Hypernatremia
PPD - Urine - low osmol and low Na (because it is dilute). Serum low osmol and low na.
DI: Urine - low osmol and low Na. Serum high osmol, high na.
- central DI: lack of ADH (so you're always diuressing)
- nephrogenic DI: kidneys don't respond to ADH ( so keep spilling water)
74
Description of a child with rickets (bowed legs, wide wrists).
What are three laboratory tests that you would order?
Ca, PO4, ALP, PTH, 25OHD
75
3 wk male infant vx, lethargy, poor po intake, Na 118, K8, most important lab test:
```
a vasopressin
b 17 OHP
c calcium
d renin
e cortisol
```
b 17 OHP
CAH - salt wasting form - hyponatremia, hyperkalemia, metabolic acidosis
76
A 14 y.o. girl presents with concerns about delayed puberty. She has no breast development or pubic hair, and
has never had a period. Her height is below the 3rd percentile for age, and her bone age is normal. Most likely
diagnosis:
a) Hypothyroidism
b) Turner syndrome
c) Androgen insensitivity syndrome
d) Constitutional growth delay
b) Turner syndrome
77
What is best test to determine initial dose of thyroid replacement in Hashimoto’s
a) TSH
b) T4
c) fT4
a) TSH
subclinical (high TSH, normal T4)= controversial= most tx until growth and puberty and R/A so no
impact on brain or growth; if TSH high and T4 low, definitely treat
78
Young child presents to the emergency room looking unwell with a sodium of 132 and potassium of 6.2. What is the diagnosis?
Adrenal Insufficiency
79
Kid with salt wasting CAH. Has gastro. She takes hydrocortisone and florinef.
Tolerated oral rehydration solution. Ready for D/C lytes are normal.
What would be your suggestion on discharge.
Stress Dosing, double baseline hydrocortisone until 24 hours of no vomiting
(§ HC 8-10mg/m2 for maintenance
§ Stress dose 20-30mg/m2 for illness
§ Stress dose 50-100mg/m2 for surgery/crisis)
80
Which of the following has the latest onset of pubertal changes in girls:
a. Axillary hair
b. Menarche
c. Breast development
d. Increased growth velocity
b. Menarche
Boobs, pubes, grow, flow
81
Girl described…obese, irregular periods, acanthosis nigricans, increased facial hair. What is her most
likely diagnosis?
PCOS
82
X-linked familial Rickets, what will be low?
a. ALP
b. PTH
c. Vit 1-25 OH vitamin D
d. calcium
e. phosphate
e. phosphate
| also called hypophosphatemic Rickets
83
6 year old child who was growing 2 cm/year, height now <5th percentile and 50% for weight. Bone age 4 years. Diagnosis?
a. Celiac disease
b. GH deficiency
c. Turner syndrome
b. GH deficiency
c. Turner syndrome
Could be either - Turner usually starts to fall off around age 6 so if ongoing for longer may be more likely GH deficiency; if female may be more likely Turners
84
Which is true regarding lymphocytic thyroiditis:
a) intrathyroidal infiltration primarily by B cells
b) anti-thyroglobulin antibodies are commonly present
c) TSH is always elevated early in the course
d) thyroid microsomal antibodies are present in the majority of children
e) TSH antibody is present
d) thyroid microsomal antibodies (now called antiTPO abs) are present in the majority of children (90%)
lymphocytic thyroiditis = AKA hashimoto or autoimmune thyroiditis; infiltration 60% T cells, 30% B cells
antithyroglobulin abs positive in less than half of cases; TSH antibody in 18%
85
3 year girl with vaginal bleeding, advance bone age, tanner stage 3, café au lait spots,what to do?
a) investigation for other endocrinopathy
b) bone scan
c) molecular test for NF
a) investigation for other endocrinopathy
McCune-Albright Syndrome
· Triad of peripheral precocious puberty, café au lait macules, and fibrous dysplasia of the skeletal system
· Rare, 1/100,000
· Can also cause pituitary, thyroid, and adrenal abnormalities
86
A 9 year old boy who used to be about average height in his class is now becoming one of the smallest. His height has dropped for the 25 th to the 10 th percentile and his weight has dropped from the 25 th to the 5 th percentile. Which of the following tests is most likely to help in making the diagnosis:
a. TSH
b. IGF-1 level
c. Anti-tissue transglutaminase antibody
c. Anti-tissue transglutaminase antibody
Both height and weight falling
87
15 y.o. male presents with two week history of polyuria, polydypsia and weight loss. You diagnose diabetes
mellitus.
A) If the child has DM1, what is required for diagnosis?
B) What is the BEST method to screen for diabetic nephropathy?
C) When do you send this child for ophthalmology assessment to screen for retinopathy?
A) If the child has DM1, what is required for diagnosis? Fasting blood sugar of >7.0, random blood sugar of >11.1 (or 2 hour OGTT), or HbA1c >6.5
B) First morning urine for albumin to creatinine
ratio (12y old or 5y after diagnosis, annually)
C) Optho:
Start at 15y old if >5y from
diagnosis, annually
If just Dx- then start in 5 years
88
Child who is 120 cm and 28.8 kg. In your office. He complains of being tired during the day. Has occasional headaches at school. Snores at night. Calculate his BMI. BMI chart provided for him. What do you think of his BMI? (he plots directly on the 97 percentile). What would you be concerned about IN THIS PARTICULAR PATIENT?
BMI= 28.8/1.2x1.2= 20= 97%ile=
OSA, Obesity
89
Normal Linear Velocity (cm/year):
- Birth to 1 yr
- 1 to 2 yrs
- 2 to 3 years
- 3 years to puberty:
- Peak velocity girls:
- Peak velocity boys:
Normal Linear Velocity (cm/year):
- Birth to 1 yr: 25
- 1 to 2 yrs: 12
- 2 to 3 years: 8
- 3 years to puberty: 6
- Peak velocity girls: 8.3
- Peak velocity boys: 9.5
90
What is the standard test to determine vitamin D status?
25-hydroxyvitamin D
91
Baby with persistent hypoglycemia, now on D10 at TFI 120. What is most likely cause?
a. GH deficiency
b. Cortisol deficiency
c. Fatty acid oxidation defect
d. Hyperinsulinism
d. Hyperinsulinism
Most common cause of persistent hypoglycaemia in infants.
92
```
At what BMI would you give parents advice about diet and exercise? (2008 MCQ)
80%
85%
95%
99%
```
85%ile
Reminder - 85-95%ile = overweight
I'd argue that if the kid's BMI is creeping up, you should consider before they reach 85%ile
93
The estrogen part of the OCP causes what?
a. moodiness
b. salt and water retention
c. acne
b. salt and water retention
94
4 year old. Has viral illness. Comes in with hypoglycemia. Has 4+ ketones in the urine. What is the most likely cause?
a. Fatty acid oxidation defect
b. Hyperinsulinism
c. Ketotic hypoglycemia
c. Ketotic hypoglycemia
The other two would have low/no ketones
95
Child with perineoscrotal hypospadias , enlarged phallus, non-palpable testicles.
a. congenital adrenal hyperplasia
b. 5-alpha reductase deficiency
c. partial androgen insensitivity
d. normal male
Probably
b. 5-alpha reductase deficiency
In 5-alpha reductase deficiency, you have testosterone but not DHT (because 5-alpha R is the enzyme that makes DHT from T). In this syndrome the phallus will enlarge during puberty... so maybe this is an older child?
96
Newborn with a TSH of 25. What do you do?
a. start thyroxine
b. repeat neonatal screen
c. bring them into the office as soon as possible
d. thyroid ultrasound
b. repeat screen and
c. bring them into the office as soon as possible
need to have confirmatory testing done and be started on thyroxine, but do need to clinically assess first; if TSH >40 start thyroxine immediately after confirmatory testing is drawn (do not wait for test results). Measure T4 and TSH.
97
Child takes grandfather's glyburide pills.
Looks well but glu 1.7. What is your initial management (1 line)?
How often would you check the glucose (1 line)?
How long would you observe in hospital (1 line)?
Glyburide is sulfonylurea - increases release of endogenous insulin
1. give simple sugar PO (juice, dextrose fast tab), start IV, bolus 5ml/kg D10W; ECG - can prolong QT; if can't get IV then do IM glucagon
- If symptomatic then give Octreotide 1 mcg/kg q6h x 24 h
2. Check glucose q30-1h until stabilized, then q4h
3. observe x24h - 48h (duration of effect of glyburide, need at least 48h if on Octreotide)
- D/C if maintaining glucose without support
98
Pubertal gynecomastia is most likely associated with:
1. Tanner I
2. breast size < 4 cm
3. nontender breasts
1. breasts lasting for 3 years
2. testes < 3.5 cm
2. breast size < 4 cm (this is talking about males obvi)
gynecomastia prior to puberty PATHOLOGICAL (measure testicular volume. If < 4 cc= not in puberty).
99
A patient with XX, absence of testosterone, absence of SRY, and absence of Mullerian inhibiting hormone will have what gender phenotype?
female (SRY leads to formation of testes, MIS prevents formation of uterus, fallopian tubes and proximal vagina so if you DO NOT have it you'll be a normal female)
100
What is the diagnostic criteria for PCOS?
2 of 3:
- menstrual irregularities - oligomenorrhea (<8 periods per year)
- physical or biochemical hyperandrogenism
- polycystic ovaries
101
Androgen insensitivity syndrome occurs due to:
a) decreased peripheral sensitivity to testosterone
b) decreased production of testosterone
c) impaired conversion of testosterone precursors
a) decreased peripheral sensitivity to testosterone
All have testes and normal or elevated testosterone and LH
Just an FYI - old exams still used Testicular Feminization Synd
- Most common male DSD
- X-linked recessive
- Phenotypic female (complete) to male w/ ambiguous genitalia
- Presence of testes
- Normal or high testosterone and LH
102
Kid who has bone age of 12. Calculate mid parental height. Mom was 157cm, dad was 180 cm.
MPH = 162 if female, 175 if male
103
What is the target hemoglobin A1c in a 7 year old child with type I diabetes?
a) 7.0%
b) 8.0%
c) 7.5%
d) 8.5%
c) 7.5%
104
6 y.o. female with 6 month history of pubic hair development. No other secondary sexual characteristics. Bone age is 6 yr 6 months . Urine ketosteroids markedly
increased. Urine hydroxysteroids normal. Serum gonadotropins, testosterone, 17-hydroxyprogesterone and ketosteroids normal. No change with dexamethasone
challenge. Most likely diagnosis:
a. CAH
b. adrenal tumour
c. physiologic adrenarche
d. undisclosed exogenous source of steroids
e. Cushing’s
c. physiologic adrenarche
Premature Adrenarche (Pubarche)
- Appearance of sexual hair before 8yr in girls and 9 yrs in boys without any other evidence of maturation
- More frequent in girls than boys
- axillary odour is common
- Usually slowly progressive, no Tx
- If Dx unclear, do ACTH stim to rule out non-classical CAH
50% of females with premature adrenarche are at high risk for hyperadrogenism and PCOS +/- metabolic syndrome
105
Newborn baby with congenital hypothyroidism confirmed on newborn screening with TSH 55 and low T4. You bring the family back to start thyroxine replacement therapy.
1. What is the most common etiology of congenital hypothyroidism?
2. What are TWO recommendations you would make to the parents to ensure maximal absorption of the medication?
3. When would you repeat testing?
1. Thyroid dysgenesis
2.
Give as tablet, not liquid
Crush in small volume breast milk or water
Consistent time of day
Don't mix with soy, iron or Ca (can inhibit absorption)
3. 2 and 4 weeks after initial treatment, then q1-2 mos x 6 mos
106
Basic evaluation toddler with growth failure
```
Step 1:
CBC
ESR or CRP
Lytes, vBG, blood glucose
Creatinine, BUN
Serum protein, albumin
Serum iron, TIBC, Ferritin
Ca, Phos, Alk Phos
Liver enzymes (AST, ALT, GGT)
Serum immunoglobulins
TSH
Tissue transglutaminases (with IgA)
Urinalysis
```
```
Step 2:
Sweat chloride
Vitamin levels
Fecal elastase
Bone age
```
107
Babe born term, LGA (90th for weight). Babe glu was 1.6 at four hour mark and despite IV glucose continues to be under 2. Needing higher GIR.
1. What is the most likely cause for hypoglycemia
2. Three blood tests needed while hypoglycemic
3. What are two medications to treat refractory hypoglycemia (2)
1. Hyperinsulinism
2. Glucose, Insulin, Ketones, Lactate, FFA, Ammonia, Cortisol, GH, ILGF, C-Peptide, Electrolytes, Gas, etc etc
3. Octerotide, Diazoxide
108
Girl with PCOS. what lab abnormalities would be expected? What clinical complaints would be expected?
1. increased LH, decreased FSH; high androgens (serum testosterone, DHEAS; decreased sex hormone binding globulin)
2. increased LH = increased ovarian androgen production = acne, balding, hirsutism, rapid weight gain, insulin resistance, metabolic syndrome
- decreased FSH = impaired folliculogenesis = oligomenorrhea (irregular periods or secondary amenorrhea)
109
Child presents to ER. Has septic optic dysplasia. Is in shock. Na 148 K 6.2 Glucose 3.2 After fluid resuscitation, what is your next step.
a. Antibiotics
b. IV hydrocortisone
c. Glucose bolus
d. D5 ½ NS at some rate
b. IV hydrocortisone
Septo-optic dysplasia can have panhypopit so would need steroids for adrenal insufficiency (no release of ACTH from pituitary)
110
14 year old girl has severe dysmenorrhea and has missed 2-3 days of school with each period.
1. What are three causes of dysmennorhea?
2. What two classes of medications would you prescribe for her ?
1. Causes of dysmenorrhea:
- idiopathic
- endometriosis
- uterine polyps
- ovarian cyst
- PID
- IUD
- Pregnancy
2. Medications
- combined OCP
- NSAIDs
111
Features of constitutional short stature include all EXCEPT:
a) adequate nutrition
b) normal CT of sella turcica
c) growth velocity < 3 cm/yr
d) bone age delayed by 1.5-4 years
c) growth velocity < 3 cm/yr
should have normal growth velocity (parallel curve, just below it)
- Downward shift of growth rate at 3-6 mos
- By age 3-4, growing at low-normal rate, growth remains low but parallel to 3%ile
- Delayed pubertal development
- Delayed skeletal age
- Often Fhx of late bloomers
112
FHX of hypercholesterolemia. Dad had MI at 36. Has high total cholesterol (6) and high LDL. What do you advise?
a. lifestyle modification
b. lifestyle modification + low fat diet
c. lifestyle modification + statin
d. lifestyle modification + cholestyrine.
b. lifestyle modification + low fat diet
? potential for lifestyle and statin
Familial Hypercholesterolemia
Diagnosis for Heterozygous FH
- high levels of total LDL + 1 or more of:
- family history of hypercholestrolemia
- history of premature CHD in patient or family members
- physical exam findings of abnormal cholestrol deposition
Tx: Heterozygotes - diet alone not likely to help, may require statins. May benefit from states as early as 10 years.
113
Which of the following is most important in assigning sex of rearing:
a. level of testosterone
b. chromosomes
c. if testes are descended
d. gonadotropin levels
b. chromosomes
114
Approach to treatment of adrenal insufficiency crisis (5 things):
```
Salt: restore volume - NS okay
Sugar: treat hypoglycaemia
Steroids: IV hydrocortisone
Support: maintain BP (pressors PRN), PICU admission
Search: look for underlying etiology
```
115
Which of the following is true in puberty?
a) menstruation at Tanner stage IV
b) maximum penile growth at Tanner stage II
c) axillary hair in males at Tanner stage III
d) voice change at Tanner Stage III
e) Double breast contour in girls at Tanner stage III
a) menstruation at Tanner stage IV
116
Delayed Puberty cut-offs
No menarche by 15 y.o.
OR
No secondary sexual traits by
13 y.o. for F or
14 y.o. for M.
117
Male/Female Tanner Pubic Hair
T1: None
T2: Small long Downey hair, slight pigment at base of penis or on labia majora
T3: Hair more coarse and curly, extends laterally
T4: Adult hair quality, across pubis but not thighs
T5: Hair to medial surface of thighs
118
Which deficiency might be found in a female infant with clitoromegaly:
a) 21-hydroxylase
b) alpha-1-antitrypsin
c) phenylalanine hydroxylase
d) pyruvate kinase
e) cystathionine
a) 21-hydroxylase
- most common enzyme deficiency in CAH (test 17-OHP to diagnose)
Classic = 21-hydroxylase deficiency
- Gene = CYP21
- Glucocorticoid deficiency : low cortisol, increased ACTH, increased 17-OHP
- Mineralocorticoid deficiency: salt wasting (hypoNa, hyperK and increased renin)
- Ambig genitalia in females
- Virilization in males/females
119
```
A 6 year old female with pubic hair. The is increased ketosteroids, normal 17-OHP, normal testosterone. After dexamethasone stimulation there is no increase in
17-OHP. The diagnosis is:
a. CAH
b. Premature pubarche
c. Adrenal tumour
d. Cushing syndrome
e. Hyperthyroidism
```
b. Premature pubarche
| - increased basal and ACTH stimulated levels of DHEA, 17-hydroxypregnenolone and androstenedione
ketosteroids
120
A patient comes in in DKA with a sodium of 121.
a. What is the reason for the low sodium?
The patient has been started on IV NS with 20mEq KCL/L and an hour later 0.1u/kg/min of insulin was added. Four hours from presentation, the glucose is 6, K is 3.4 and the Na is 125.
What two changes should be made to the current management?
a. Pseudohyponatremia
b. Increase K+ in fluids
Add dextrose to fluids
121
Asymptomatic goiter. What is your management.
a. See in 6 monhts
b. Thyroid ultrasound
c. TSH
c. TSH
Hashimotos is most common
Iodine in poor countries
Thyrotropin receptor stimulating Abs (TRABs) in Grave's
Maternal antithyroid drugs
122
```
16 yo boy has admitted to using anabolic steroids. His testes appear small. Why are his testes small? (1 line)
What test(s) would you do to confirm your suspicion of why testes are small.
```
1. Negative feedback of anabolic/androgens on HPA axis
| 2. Testosterone, LH, FSH
123
2 year old child is adopted by obese parents. What can be said about this child?
a) Child will almost certainly be obese, irrespective of biological parents.
b) Child will be thin if biological parents are thin
c) Obesity associated with higher socioeconomic status
d) Obese as infant = 90% chance of being obese adult
b) Child will be thin if biological parents are thin
Obesity RF:
- higher maternal education protective
- low SES increases risk
- risk more strongly conferred by biological than adoptive parents
124
A 10-year-old girl has an enlarged asymptomatic thyroid. Most likely:
a) Hashimoto's thyroiditis
b) Graves' disease
c) congenital goiter
d) carcinoma
a) Hashimoto's thyroiditis
125
Picture of acanthosis nigricans in obese Native adolescent.
A) Identify picture.
B) What condition causes this?
B) acanthosis is sign of insulin resistance and is part of metabolic syndrome (may have T2DM)
126
What are the diagnostic criteria for metabolic syndrome?
3 of:
- Tg >1.7mmol/L
- HDL <1.03 mmol/L
- BP >90%ile or >130/85
- Glucose >5.6 mmol/L or Diabetes 2
- Waist circumference >90%ile
127
When to intervene and counsel on risk of obesity:
a. BMI > 75 kg/m2
b. BMI > 85 kg/m2
c. BMI > 90 kg/m2
d. BMI > 95 kg/m2
b. BMI > 85 kg/m2
128
A boy comes with a seizure. He is hypotensive. His Na is 128, K 6.1, glucose 1.1. Which investigation would be most helpful in your diagnosis?
a) EEG
b) acylcarnitine profile
c) serum cortisol
c) serum cortisol
Would be inappropriately low
129
4 effects of excess vitamin D
Excess vitamin D leads to
- hypercalcemia (hypervitaminosis D):
- nausea, vomiting, anorexia
- constipation and abdominal pain
- HTN, short QT, torsades
- hypotonia, lethargy, psychosis
- polyuria, dehydration, nephrocalcinosis
130
Newborn's TSH screen comes back as 25 ( N less than 20). What is the most likely cause of a false positive screen ( l line). What is the most likely cause of a false negative screen (1 line). List 3 investigations to work up congenital hypothyroidism.
1. false positives: screening before 24 hours of age (physiologic surge), prematurity (using wrong cutoffs)
2. false negatives: high hematocrit, central hypothyroidism (hypopituitarism - if you screen TSH alone), Not adjusting cutoff for age
```
3. investigations:
o TSH + free T4, T3
o US
o TPO antibodies
- Radionuclide uptake thyroid scan
```
131
Babe in shock with Na 131, K 5.9. What is the BEST thing to do right now?
a. IV hydrocortisone
b. NS bolus
c. D10W
d. D5W
b. NS bolus - bolus first given shock, then steroids
132
Which is true regarding precocious puberty:
a) it is more common in boys than girls
b) final height is not affected
c) the most common etiology in girls is idiopathic
d) gonadotropins are invariably increased
e) the sella turcica is often abnormal
c) the most common etiology in girls is idiopathic
Precocious puberty (girls <8 and boys <9)
- tall child but short adult
- girls > boys
- 80-90% idiopathic
- Gonadotropins suppressed in peripheral PP
- pituitary tumours are rare
- pathologic in 40-75% boys, 10-25% girls
- advanced linear growth, bone age and pubertal levels of LH and FSH
- Tx: GnRH agonist
133
Diabetic with microalbuminuria. What would you prescribe?
a. Enalapril
b. Hydrochlorothiazide
c. Nifedipine
d. Salt and water restriction
a. Enalapril
ACE inhibitors halt progression of diabetic nephropathy; microalbuminuria is a good early screen for renal dysfunction
Start screening 5 years after dx in prepubertal children and 2 years after Dx in pubertal kids
(annual Albumin:Cr ratio)
134
What is consistent with CAH
a) genetic male with shock, hypoNa, hyperK
b) genetic male with ambiguous genitalia
c) genetic female with hyperK and hyperNa
d) genetic female with virialized genitalia
a) genetic male with shock, hypoNa, hyperK
| Classic 21-OHase def
135
Child with diabetes. When would you screen for eyes and kidney disease? What test for kidney disease?
eyes:
Annually when >15 yo and > 5 years disease (whatever is later)
kidneys:
Annually when > 12 yo and > 5 year disease (whatever is later)
Urine Albumin:Creatinine
136
A teenager has been using performance enhancing supplements, presenting with jaundice, gynecomastia. What was the drug?
a) growth hormone
b) anabolic steroids
c) creatine
d) amphetamines
b) anabolic steroids
137
A mother had amniocentesis due to advanced maternal age, with a karyotype of XY. The baby is born and is a normal female. What is the most likely etiology of this:
a. Testicular feminization
b. Chimera
c. Impossible situation
d. Maternal karyotype
a. Testicular feminization (aka AIS)
138
Differential of Short Stature
Normal variants:
- Familial short stature
- Constitutional Delay (slow during first 3-5 yers, normal during childhood, delayed pubertal growth spurt)
- SGA (catch up)
Endo:
- Hypothyroid
- Cushings
- GH deficiency
- Precocious puberty
Systemic:
- undernutrition
- steroid therapy
- GI disease (crohns, celiac)
- rheum (JIA!)
- Renal (CKD, RTA)
- Malignancy
- Pulm (CF)
- Immunodeficiency
Genetic:
- Turner
- Noonan
- Russel-Silver
Skeletal:
- Achondroplasia
- Osteogenesis imperfecta
139
What is the best way to monitor effectiveness of thyroid replacement in autoimmune thyroiditis?
a. T4
b. Free T4
c. T3
d. TSH
e. Antibody
d. TSH
For acquired primary hypothyroidism - check the TSH and FT4 q6-12 weeks after starting then q6-12 mos, or 6-12 weeks after a dose change or if the pt has symptoms.
For CENTRAL hypothyroidism, only measure the serum FT4
140
6 year old F, brought in with puberty concerns: breast dev (SMR3) and pubic hair (SMR 2), no menses.
A) What investigation will help distinguish between true central or peripheral puberty?
B) What is the most likely cause?
C) Why do we treat?
A) LH/FSH/E or T
B) Idiopathic
C) Delay further maturation - psychosocial well being, ensure good final height
Tx - GnRH agonist (leuprolide)
141
6 year old child with vaginal bleeding, no foreign body, no exogenous estrogen sources. Has bone age of 7.5 years, 17-OPH normal, what is dx
a. CAH
b. craniopharyngioma
c. premature adrenarche
b. craniopharyngioma
vaginal bleeding in 6yo → precocious puberty (not adrenarche)
Pubic hair alone → adrenarche
142
Which type of short stature has consistent bone and chronological age?
a. familial
b. constitutional
c. psychological dwarfism
d. hypothyroidism
a. Familial
Constitutional - delayed
Psych dwarfism - ++ stress leads to low GH, delayed
Hypothy - delayed
143
Which is an indication of delayed puberty?
a) 15 yo girl with amenorrhea
b) 12 year old girl with no axillary hair
c) 13 yo boy with no pubic hair
d) 15 yo boy with no voice change
e) 13 yo girl with no menarche
a) 15 yo girl with amenorrhea
Delayed Puberty:
No menarche by 15 y.o.
OR no secondary sexual traits by 13 y.o. for F or 14 y.o. for M.
144
Extra-skeletal findings of Rickets
```
Hypoplasia of dental enamel
Decreased muscle tone
Delayed motor milestones
Hypocalcemic seizures
Prone to infections
Increased sweating
```
145
A 6 year old girl presents with short stature. She was born at the 50th percentile for height and weight. She is currently at the 25th percentile for weight and the 3rd percentile for height. She has a bone age of 4years. The most likely diagnosis is:
a) Turner’s syndrome
b) Growth hormone deficiency
c) Crohn’s disease
d) Cystic fibrosis with pancreatic involvement
b) Growth hormone deficiency
she has relative weight preservation for height, which makes you think of an endocrinologic cause
all other etiologies on this list should be thin for height
146
7-year- old female with pubic hair and adult type body odor. Bone age is 8 years.
a. What is the diagnosis?
b. What medical condition is she at risk for later in life?
Premature adrenarche
Hyperandrogenism and PCOS
Metabolic syndrome
147
15 year old boy who you have been following for Type 1 diabetes. You are preparing for transition to adult care.
List 5 things you would do to assist with this transition?
1. Educate about his illness
2. Involve in mangement
3. Involve MD or End from adult side
4. Give transition letter (with when and where to followup)
5. Graduation certificate
6. Teach skills of negotiation
7. Appointments alone
8. Refer to support groups for teens with chronic health issues
148
Child with BMI over 31.
1. How do you calculate BMI
2. What are 5 diseases that
he is at risk for (3)?
1. BMI = wt (kg)/ (height in m)^2
- OSA
- hyperlipidemia
- hypertension
- T2DM/glucose intolerance
- MSK issues - Blount's disease (tibia vara), SCFE
- Non-EtoH Fatty liver disease
- Gallbladder disease
- (PCOS - female)
- pseudotumour cerebri
- psychosocial difficulties
- asthma
149
Newborn with ambiguous genitalia. Phallus is 2 cm, labia are fused.
1. What is the most likely diagnosis(1) ?
2. What test would give you the answer (1)
3. What acute complication is this child susceptible to?
1. CAH
2. 17-OHP (17-hydroxyprogesterone)
3. Adrenal crisis, shock, cardiac arrhythmia, death, salt wasting crisis
150
Which physical exam is not helpful in this 10 year old boy with obesity
Triceps Fold
Waist circumference
Waist to hip ratio
BMI
triceps fold
Children > 2 years old with a BMI >95thpercentile meet criteria for obesity, those between 85-95thare overweight
151
15 year old boy with T1DM. You can only follow him in your clinic until 18 years of age. 5 things you would do to try to help him transition to adult care.
- ensure follow-up during transition - continue seeing while he is waiting for initial assessment by adult service
- organized transition services (possible joint clinic)
- adolescent involvement in management (increasing levels of responsibility and information, see youth alone to
promote autonomy)
- adolescent and family understanding of diabetes and reasons for treatment
- teach skills of negotiation and communication required in adult system
- formal graduation
- transition letter about new location, staff and what to expect
152
Causes of Central and Peripheral precocious puberty
Central:
- Idiopathic (80-90% girls but only 25-60% boys)
- CNS lesions (hamartomas most common)
- pituitary gonadotropin secreting tumors
- genetic causes
Peripheral:
- Girls: Ovarian cysts / tumors
- Boys : Leydig cell tumors, hCG secreting tumors
- Primary hypothyroidism
- Exogenous sex steroids
- McCune-Albright (triad of peripheral PP, Irregular Cafe-Au-Lait, Fibrous dysplasia of bone)
153
6 year old child with pubic hair. Bone age 6 1/2 years. Most likely dx?
a. craniopharyngioma
b. benign premature adrenarche
b. benign premature adrenarche
Premature Adrenarche:
● ISOLATED development of pubic hair or body odour, mild acne with NO other signs of puberty (rapid growth or advancement in bone age aka no vaginal d/c or breast in F and no testicular enlargement in M)
154
Family with hypothyroidism on Synthroid bring daughter with growth 5 cm/year. Normal exam. What to do?
a) TSH, T4
b) T4, T3
c) fT4, T4
d) Nothing
d) Nothing
155
Male 3 weeks old. Presents with shock, hyperpigmented scrotum, low NA 115, K 6.8. What is your most important investigation? What is your immediate management?
1. 17-OH-P
| 2. NS Bolus, Check glucose, IV Hydrocortisone
156
3 mo with constipation since birth, now FTT. What hormonal test would be best?
TSH (congenital hypothyroidism)
157
Tanner stage III in an adolescent male includes:
a) Presence of axillary hair
b) Presence of sparse pubic hair which is becoming darker and starting to curl
c) Growth spurt
d) Voice change
Presence of sparse pubic hair which is becoming darker and starting to curl
T3: T volume 6-12, penis starts to lengthen
T3: Hair more coarse and curly, extends laterally
158
13 yo girl with T1DM. She has been having more frequent episodes of hypoglycemia and abdominal distension. She is Tanner stage 1. What screening should you pursue?
TSH, T4, anti-TPO
Anti-TTG
Anti-TTG
You should also check her thyroid!
159
15 yo boy with gynecomastia, tanner 2. Otherwise is tanner 3.
a) what is the most likely diagnosis?
b) what are two important aspects of management?
a. Pubertal gynecomastia
b. Inquire if psychosocial impact, provide assurance
Rule out pathology on history and exam
160
16yo female Tanner I, amenorrhea, short stature, treated for high risk ALL, received chemo (including cyclophosphamide) and radiation.
1. What are 2 causes for her delayed puberty.
2. 3 tests to order
Radiation induced ovarian failure
Cyclophosphamide induced ovarian failure
LH, FSH, bone age
1. Primary hypogonadism from radiation or alkylating agents (ovarian failure)
Secondary hypogonadism from chemo or radiation
2. LH, FSH, Bone age
Consider GnRH stim
161
Vitamin D deficient Rickets, what will be low?
a. ALP
b. PTH
c. Vit 1-25 OH vitamin D
d. Vit 25 OH vitamin D
ANSWER: d. Vit 25 OH - Low in vitamin D deficiency Rickets (due to low endogenous vitamin D)
a. ALP (UP because lots of bone turnover)
c. Vit 1-25 OH - Low in vitamin D dependent rickets (which is reduced activity of 25 (oh) 1-alpha-hydroxylase) and CKD
162
Neonatal signs of hypothyroidism
```
Asymptomatic
Large head size
Wide fontanelles
Prolonged jaundice
Lethargy, poor feeding
Macroglossia, respiratory difficulties
Refractory constipation
Low temp, cold mottled skin
Edema of genitals, extremities
Bradycardia, murmurs, cardiomegaly
Macrocytic anemia
Other anomalies
```
163
A 12 year old boy notices a mass on one of his testicles. He has no other systemic symptoms. Which of the
following investigations do you do first:
a. Testicular scan
b. Ultrasound
c. Beta HCG & AFP
b. Ultrasound
● Serum tumour markers (i.e. alpha fetoprotein, beta HCG, chorionic gonadotropin) should also be drawn.
35% pre-pubertal testis tumors are malignant, most common- yolk sac tumors
95% adolescent painless solid testicular masses are malignant
164
```
A 12 year old girl is falling of her height curve. She has also gained weight recently and is cold-intolerant.
What test would you order?
a) TSH
b) GH
c) a.m. cortisol
d) TTG
```
a) TSH
165
13-year-old girl onset of menses 11 mo. ago with menometorrhagia x 2 weeks. Hb 84. Most likely diagnosis?
A. Progesterone excess
B. Estrogen insufficiency
C. von Willebrand
D. Continued endometrial proliferation
D. Continued endometrial proliferation
In Anovulatory Dysfunction; progesterone is low as absence of ovulation/luteal phase
166
Child born term, bw normal, down to 3 rd percentile by 12 mos, growth chart shown with ht and wt both following 3 rd percentile. Parents heights given - both short. Diagnosis?
familial short stature
167
Mediterranean teen with coarse hair on chest, bum, legs, arms. Mod-severe acne. Most likely dx?
a. CAH
b. PCOS
c. Familial hirsutism
b. PCOS
Late onset 21-hydroxylase deficiency rare, but possible and needs to be ruled out in diagnostic work up
Familial hirsutism is a Dx of exclusion
168
1 yo child with clinical symptoms of rickets. Ca and PO4 are low normal. He has widened physes. You start treatment with D3 for suspected vitamin D deficient rickets.
1. When would you have the child return to assess the response to treatment (1 line).
2. If he's not responding, what other diagnoses would you consider (2).
3. What blood test would you monitor to assess when you could decrease the vit D supplements.
1. BW (Ca, Phos, Alk Phos, Urine Ca:Cr) at 4 weeks; Xray wrist or knees should show healing at 3 mos
2. Adherence, 25-hydroxylase deficiency, malabsorption (Celiac, IBD), hereditary resistance to Vitamin D, renal disease
3. 25, OHD
169
The use of growth hormone has yielded positive results in which condition:
a) familial short stature with height <2 standard deviations below the mean for age
b) constitutional short stature with height <2 standard deviations below the mean for age
c) growth hormone deficiency in girls after epiphyseal closure
d) Turner syndrome
e) Down syndrome
ANSWER: d) Turner syndrome
Interestingly, we don't test for GH in Turners because they have no deficiency but grow better with therapy. Give when height falls <5%ile
Indications for GH therapy:
- GH deficiency
- Turner
- idiopathic <2.25SD below mean, corrected for bone age
- SGA without catch up by 2 years
- Prader-Willi
- Noonan
- chronic renal failure before transplant
170
Which of the following is a feature of primary nephrogenic DI?
a. Mental retardation
b. Male predominance
b. Male predominance
Most common pattern of inheritance in congenital NDI is X-Linked
Inability to concentrate urine even in the presence of ADH
Secondary (acquired) - seen in disorders affecting renal tubular fcn (obstructive uropathies, acute or chronic renal failure, renal cystic diseases, interstitial nephritis, etc)
171
Child with growth failure height and weight < 5%, Head was 50%, triangular face, cafe au lait spots, hypoglycemia. What is the diagonsis
a. Inborn error of metabolism
b. NF
c. Tuberous sclerosis
d. Russell silver syndrome
d. Russell silver syndrome
- Affected individuals typically have proportionately short stature, normal head circumference, fifth-finger clinodactyly, typical facial features with triangular facies
- hypoglycemia due to
poor appetite and thin habitus
172
All are seen in hypoparathyroidism EXCEPT:
a) hyporeflexia
b) increased intracranial pressure
c) carpopedal spasm
d) candidiasis
e) nonspecific EEG changes
a) hyporeflexia
hypopara leads to hypoCa = hyperreflexia
- HypoCa, HyperPhos, Low Vitamin D
- muscular pain and cramps - progressing numbness, stiffness, tingling hands and feet
- carpopedal spasm, seizures
- mucocutaneous candidiasis
- headache, vomiting, increased ICP, papilledema
- cataracts
- keratoconjunctivitis
173
Male Tanner Stages
T1: T volume < 1.5 ml
T2: T volume 1.6-6ml, scrotal skin thins, reddens
T3: T volume 6-12, penis starts to lengthen
T4: T volume 12-20ml, penis increases length
T5: T volume >20, adult scrotum and penis
174
Teenaged boy who has just had orthopedic surgery. Has been in the casts and on bedrest for 11 days. Suddenly develops anorexia, polydypsia and polyuria. Glucose is normal on admission, BMI 29.
1. What is the diagnosis?
2. What one test can give you the diagnosis (1)
3. How is this managed?
1. immobilization hypercalcemia
2. test: ionized calcium
Basically you're lying in bed doing nothing so your body decides to start breaking your bones down - you get high calcium which makes your stomach hurt and decreases your kidney's ability to concentrate your urine - so you get dehydrated and feel thirsty and drink all the time
3. mgmt: IVF at 1.5-2x maintenance; lasix to help get rid of calcium
175
```
14 yo boy with short stature. Both parents are normal height. He is 5 th %ile for both ht and wt. He is
tanner 2. What is your next test.
1. random growth hormone
2. bone age
3. cortisol level
4. testosterone level
```
2. bone age
176
18 month old child with hypoglycemia and no ketonemia or ketonuria. What are the two most likely diagnoses?
Fatty acid oxidation defects
| Hyperinsulinism
177
14 year old girl with amennorhea, small breast, growth < 3rd percentile, most likely diagnosis
a. Turners Syndrome
b. Hypothyroidism
a. Turners Syndrome
178
An 18 year old boy has asthma, for which he is on inhaled salbutamol and fluticasone, 250ucg INH bid. He has 3-4 exacerbations per month, for which he doubles the dose. He was last on oral prednisone a few weeks ago. He now presents to the ED with 1-2 days of illness, decreased PO intake and vomiting, dizziness and feeling unwell. His glucose is found to be 1.8. What is the etiology?
a) X-linked adrenoleukodystrophy
b) Ketotic hypoglycemia
c) Adrenal insufficiency
d) Addison’s disease
c) Adrenal insufficiency
179
15 yo female with amenorrhea and falling off growth curve. List Ddx (4)
```
● Turner’s Syndrome
● Hypothyroidism
● Anorexia Nervosa (Functional hypothalamic amenorrhea)
● Athletic Triad
● Craniopharyngioma
● Chronic illness
- Celiac Disease / IBD/ T1DM
```
180
2 week old, concern for micropenis 1.7cm. Testes were palpable, next workup?
Reassure
Microarray testing
LH, FSH, testosterone
Abdominal ultrasound
? Start with LH, FSH, T
... then consider microarray
Evaluation includes a karyotype, assessment of anterior pituitary function and testicular function, and MRI to determine the anatomic integrity of the hypothalamus and the anterior pituitary gland as well as the midline structure of the brain.
(Nelsons)
181
) A 9 year old boy has a BMI of 95%. His weight has been steadily increasing since 5 years of age. He watches TV 5 hours a day and has a sedentary lifestyle. His father died (or had) an MI at the age of 32. His blood work showed a high total cholesterol, high LDL, normal HDL, and normal TG. His TSH is on the upper limit on normal. What is the most likely diagnosis:
1- Familial hypercholesterolemia
2- Obesity related dyslipidemia
3- Familial combined dyslipidemia
4- Subclinical hypothyroidism
1- Familial hypercholesterolemia
182
13-year-old T1Dm, new diagnosis. pH 7.14, bicarb 11, glucose 18.7. Started on IV insulin. Had neurologically appropriate. 1 hr. later, difficult to rouse. What’s your next step?
a. IV mannitol (ABC, elevate head of bead, decrease fluid rate by ⅓, mannitol 1g/kg IV over 20 min)
b. STAT bedside glucose
c. CT head
b. Stat bedside glucose
? Wouldn't you check the glucose level first - yes, worried about cerebral edema, but could also be hypoglycaemia
183
8 year-old previously healthy boy with presenting with abdominal pain and vomiting. His father states that he has been feeling unwell for several days, has been thirsty, and has wet the bed (previously no enuresis). His labs demonstrate pH 7.04, HCO3 7, blood glucose 28, Na 147, with ketones detected in his urine. What is the appropriate next step?
Insulin bolus
NS bolus
½ NS bolus
Bicarb bolus
NS Bolus
184
Child diagnosed with Graves disease, symptomatic with hand tremors. Enjoys painting!
Medications x2
Antithyroid Drugs:
- methimazole (first choice)
- Propylthiouracil (preferred in pregnancy)
- radioactive iodine
- surgical resection
