deck 1

Question 1

Which type of adrenal insufficiency more likely to have mineralocorticoid deficiency, primary or secondary?

Answer 1

primary more likely to have mineralocorticoid deficiency
Primary also have increased ACTH level (and remember how it leads to hyper pigmentation) , abnormality is of the adrenal gland
secondary - hypothalamic or pituitary dysfunction, low cortisol with inappropriately normal or low ACTH, normal mineralocorticoid production (therefore less likely to have electrolyte abnormalities and hypovolemia)

Question 2

Ddx of primary adrenal insufficiency

Answer 2

1. enzymatic defects: CAH, congenital adrenal hypoplasia
2. autoimmune disease - autoimmune polyendocrinopathy syndromes (APS I and II), Schmidt
3. infectius disease: TB, meningococcemia, disseminated fungal infections
4. trauma: bilteral adrenal hemorrhage
5. adrenal hypoplasia
6. iatrogenic - exogenous steroids

Question 3

Most common causes of secondary adrenal insufficiency?

Answer 3

hypothalamic/pituitary poor development - timor, CNS trauma, irradiation, infection or surgery

Question 4

congenital adrenal hyperplasia - most common mutation

Answer 4

21 hydroxylase deficiency most common and partial forms
equal in males and females
late onset form - in teens with hirsutism and menstrual irregularities
girls more likely to be diagnosed early since they will have ambiguous genitalia (whereas male will have normal male genitalia)

Question 5

What is the recommended physiologic and stress dosing of oral hydrocortisone?

Answer 5

physiologic: 12-15 mg/m2/24 hours
stress dosing: 50-100 mg/m2 /24 horus of hydrocortisone
doses >50 mg/m2/24 hours are generally pharmacologic doses (not used for adrenal replacement or stress dosing

Question 6

How long of using steroids is likely to cause adrenal insufficiency?

Answer 6

> 30 days high risk of prolonged or permanent adrenal suppression
vs <10 days relatively low risk

Question 7

Causes of hypercalcemia

Answer 7

high 5 Is

1. H- hyperparathyroidism - familial, isolated, syndromic
2. Idiopathic - Williams syndrome (also have SV AS and pulmonary artery stenosis)
3. Infantile - subcutaneous fat necrosis, maternal hypoPTH
4. Infection - TB
5. Infiltration - malignancy, sarcoidosis
6. Ingestion - milk-alkali, thiazide diuretics, vitamin A, vitamin D
7. S - skeletal disorders - hypophosphatasia, immobilization, skeletal dysplasia

Question 8

menarchal 9 year old, parents are concerned about her height, which investigation to do?

Answer 8

bone age will help predict adult height (but we know it is likely advanced if she has her period)
once people have their period we tell them they will grow another 5 cm and you will grow for another 2 years

Question 9

Short stature

Answer 9

decide if normal variant or pathologic (based on growth velocity and target height) normal growth velocity is 5 cm/year
if normal - then familial short stature or constitutional delay (should have delayed bone age for constitutional)
pathologic: proportionate (prenatal (IUGR, dysmorphic syndromes, chromosomal disorders) /postnatal (meds)and disporportionate

Question 10

how to do upper and lower segment to see if proportionate

Answer 10

lower is symphysis pubis to ground, subtract this from height
check for scoliosis
can also do sitting height (takes the legs out of the equation)
if disproportionate then think of skeletal dysplasia

Question 11

Shown a growth curve of kid tracking along the 3rd percentile, what is it? target mid parental height is at that percentile
normal growth velocity
tracking towards the mid parental height

Answer 11

familial short stature

Question 12

Shown kid who is older than his little sister, way below the curve, velocity is low, way below target height?
abnormal

Answer 12

had micropenis, was treated with testosterone (known to stunt height)
IGF1 level was low, got a GH stim test
good response to growth hormone

Question 13

Any time you diagnose growth hormone deficiency, need to do MRI of the head!!!

Answer 13

MRI head - can show ectopic posterior pituitary, anterior pituitary and stalk not seen
sella turcica is where the posterior pituitary gland sits
don’t start growth hormone if you think of mass (high suspicion)

Question 14

Side effects of growth hormone treatment

Answer 14

1. SCFE

2. headaches - can get pseudotumor

Question 15

Investigations for short stature - if doesn’t look like normal variant, then what endo does:

Answer 15

poor growth velocity and short stature
endocrine screen:
TSH, free t4 (to rule out central cause - remember that you are not ruling out central cause with TSH)
Growth hormone - IGF1 (have to pay in outside lab)
o
Find: FSH/LH
The :  TSH
Adenoma: ACTH - likely will do cortisol
Prolactin 

Posterior pituitary: ADH and oxytocin
check sodium

Chronic disease work up also: CBC diff, lytes, BUN/Cr, ALT, bill, ESR (controversial)

Question 16

Approach to delayed puberty - 1st test to do

Answer 16

FSH/LH - tells you if central vs. peripheral
if peripheral then looks almost menopausal, the FSH/LH is trying to catch up
low (central) - constitutional delay of growth and puberty, hypothalamic or pituitary cause
high (peripheral) - gonadal failure

Question 17

14 year old girl without any signs of puberty

Answer 17

definition of normal puberty -
girls: age 8-13 is normal time to have puberty
boys: 9-14 is normal time
growth - started off at 50th percentile now is falling off , growth velocity is abnormal
way below the mid parental height , bone age is delayed
whenever you have a short girl with no puberty - think of Turners
follows the Turner curve perfectly

Question 18

normal pre-pubertal growth velocity

Answer 18

5 cm /year
post puberty it gets way more complicated
turner’s bone age is only delayed in puberty (not in pre-puberty)
hypothyroidism should have delayed bone age

Question 19

features of turner

Answer 19

shot stature
epicanthic folds, ptosis
high arched palate
micrognathia
lowest ears, malformed ear lobes
recurrent OM, auditory problems
low posterio hairline
short, webbed neck
shield chest, widely spaced nipples
renal malformations
streak ovaries, primary amenorrhea
cubitus valgus 
lymphedema at birth
short fourth metacarpal
pigmental nevi

Question 20

If waiting for Turner’s and waiting for karyotype, then what test can you do?

Answer 20

FSH is often very high even when young (i.e. 8 or something)

Question 21

15 year old boy, no puberty (just a bit of pubic hair)

FSH/LH is high

Answer 21

gonadal problem
#1- Klinefelter most common - do karyotype XXY
other: mumps, testicular torsion, leukaemia treatment etc

Question 22

15 year old boy, no puberty (just a bit of pubic hair)

FSH/LH are low, what should you ask ? sense of smell

Answer 22

Kallman’s
don’t have sense of smell, so need to ask about it
has to do with the migration of the neurons
LH/RH stimulation test - GnRH stimulation test - try to give GnRH if body hasn’t seen it before it will be a flat response, LH/FSH won’t go up
treat with testosterone
testes won’t grow, HCG can help them grow a bit, but they work

Question 23

14 year old boy, no puberty, strong family history of constitutional delay, gonadotropins are low, delayed bone age

Answer 23

exaggerated constitutional delay
can sometimes do testosterone injections, give them some of the early features of puberty (including a growth spurt), give for 6 months (low dose), then stop it, take over where you left off
does not impact final adult height

Question 24

Precocious puberty approach - benign variant or real thing

Answer 24

normal growth velocity and bone age - normal variant
estrogen - breasts and uterine lining changes ->thelarche
androgen - acne, hair, body odor ->premature adrenarche
increased growth velocity - pathological
advanced bone age - pathological

Question 25

premature thelarche what age

Answer 25

usually around 18 months - can stay till age 3 need to make sure have normal growth velocity and normal bone age and don't need to refer if these are okay if have increased growth velocity or advanced bone age then: GnRH stim test - to see what the deal with LH/FSH is (is it central or peripheral) ; pubertal response or pre-pubertal response - if LH is >10 then pubertal response (true central puberty), if flat (LH 1-2) then need to look elsewhere to look for where the estrogen is coming from

Question 26

premature adrenarche

Answer 26

usually around age 5 in some kids, can get adrenarche first (before age 8) even though in most girls boobs are first if going to do some investigations: 17OHP for non classic CAH, testosterone (DHEAS) (FSH/LH not that useful for premature adrenarche) tanner 2 pubic hair - DHEAS will be that level, the others should be normal

Question 27

fsh/lh levels useful when?

Answer 27

useful in delayed puberty | almost useless in precocious puberty

Question 28

6 year old girl with breast development and pubic hair

Answer 28

more likely central because both thelarche and adrenarche has growth acceleration not typical age for premature thelarche advanced bone age - follow bone age to figure out the predicted height will do a LH/RH (GnRH) stim test to confirm that it is central also will do the pituitary hormone screens do head imaging next - won't often find abnormality but need to look Treatment is Lupron - blocks the pulsatility

Question 29

Side effects of lupron

Answer 29

reasons to treat with Lupron height and psych give it monthly or triple dose every 3 months keep going until 11 year old and then take off on their own sterile abscess - at injection site - can't give it to them will be worse if you give more, then need to give sc daily some weight gain treat girls before age 6 for sure for precocious puberty, not as clear for 6-8 year old

Question 30

6 year old boy with precocious puberty

Answer 30

most important is testicular size look for peripheral cause do testosterone, DHEAS, 17OHP, androstenedione growth acceleration

Question 31

Most common CAH

Answer 31

21 hydroxylase deficiency remember that it is a spectrum of disease get shunting of the hormones to the testosterone (androgen pathway) done as a newborn screen - saves the boys

Question 32

Should always check testes in newborn girls because

Answer 32

CAH won't have testes but otherwise might look like a boy

Question 33

Disorders of Sex Differentiation

Answer 33

congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical

Question 34

46 XY DSD

Answer 34

chromosomes are male something about the individual is not male undervirilized male (so not as much androgen effect)

Question 35

46 XX DSD

Answer 35

overvirilized XX female (old language)

Question 36

ovotesticular DSD (usually XX)

Answer 36

not just your chromosomes determine what sex you are

Question 37

term to use

Answer 37

genital tubercle | labiascrotal folds

Question 38

website for families

Answer 38

www.sickkids.ca/childphysiology/cpwp/genital/genitaldevelopment

Question 39

What is DHT

Answer 39

the potent androgen in fetal development, if issue with the conversion to DHT can cause lots of problems

Question 40

Approach to ambiguous genitalia | are gonads palpable or not?

Answer 40

No - probable 46 XXDSD (ie CAH) or maternal/fetoplacental issues (in utero) Unilateral - hypospadias, ovotesticular DSD, mixed gonadal dysenesis Bilateral - 46 XYDSD - hormonal - not making enough testosterone, not respond (androgen insensitivity), enzyme problem (5alpha reductase) or hypospadias **if you can feel testes most likely XY

Question 41

46 XY DSD - can they make testosterone - do a hCG stim test to find out

Answer 41

if hcg stim test positive then ratio of T/DHT - if normal then AIS if >30 then 5 alpha reductase def if they don't respond to the hcg stim test then testosterone synthesis defect there is complete AIS and partial if undervirilized then may not produce anything unless you stimulate

Question 42

factors that affect gender assignment

Answer 42

``` diagnosis genital appearance surgical options need for life long replacement potential for fertility view of the family and cultural practices ```

Question 43

3. Child with micropenis. Best test to determine sex of rearing a. Y chromosome b. testosterone level c. hypospadias d. palpable gonads e. size of phallus

Answer 43

dr. gold bloom says palpable gonads is the best answer

Question 44

hypocalcemia with PTH high

Answer 44

vitamin D related - 7 dehydrocholesterol - vitamin D-25 OH vitamin D - 1,25 OH D3 - receptor liver, renal, 1 alpha OH deficiency, resistance not vitamin D - GI/Renal losses ( urine Ca)

Question 45

hypocalcemia with PTH low (high PO4)

Answer 45

hypoparathyroidism (inappropriate)

Question 46

hypocalcemia

Answer 46

ALP, urine calcium | remember that nomal PTH may be inappropriately normal in the face of hypocalcemia

Question 47

hypocalcemia treatment - depends on where the problem was

Answer 47

PTH deficiency - treat with calcium, calcitriol (activated vitamin D) and possibly Mg vitamin D deficiency - give them vitamin D plus enough Ca in diet if problem with 1 alpha OH deficiency then need to give 1,25 OH (calcitriol) since they can't convert it themselves

Question 48

if ionized calcium is low (<0.8 mmil)

Answer 48

or patient is symptomatic, patient needs IV calcium infusion as follow

Question 49

9 month old presents to ER with choking vs seizure

Answer 49

calcium is 0.7 mmol/L | hypocalcemic seizures

Question 50

Ddx of hypoglycaemia

Answer 50

1. endocrine cause 2. inborn error or metabolism - carb metabolism, FA metabolism, AA metabolism/organic academies 3. Acquired Disorders 4.

Question 51

Endocrine causes of hypoglycaemia

Answer 51

1. hyperinsulinism 2. not enough cortisol - adrenal insufficiency (primary or secondary) 3. GH deficiency

Question 52

If hypoglycaemic should make ketones

Answer 52

if don't make ketones: 1. fatty acid oxidation defect 2. hyperinsulinism GH only at time of hypoglycaemia - do critical sample

Question 53

things to help

Answer 53

ketones? (see above) glucose requirements (if very high then think of hyperinsulinism) hepatomegaly - glycogen storage timing of the hypoglycaemia - fasting or non fasting - FAO more when starving, vs. insulin right after) growth - GH deficiency

Question 54

most common cause of hypoglycaemia in child >18 months

Answer 54

benign ketotic hypoglycemia

Question 55

treatment of hypoglycaemia

Answer 55

if alert, treat orally if not work then treat with IV

Question 56

Adrenal insufficiency presentation

Answer 56

primary (at the level of the organ) vs secondary (above the organ) don't have bronzing with secondary (since won't have high ACTH) if at the level of the adrenal gland then won't have aldo involvement (controlled by RAS), will have more severe hypotension and hyponatremia if primary

Question 57

Critical sample for adrenal insufficiency

Answer 57

cortisol, ACTH, lytes, glucose (can get hypoglycaemia) | renin

Question 58

Treatment of adrenal insufficiency

Answer 58

1. steroids - hydrocortisone 50-100/m2 has some mineralocorticoid and glucocorticoid effect so don't need fluorine yet *want to give enough to replace but not so much that it messes up growth 2. fluid - restore volume and Na appropriately 3. sugar 4. support 5. search - for aetiology of crisis 6. Stress coverage - mild illness double, fever/vomiting - triple dose, unable to tolerate orally - solucortef IM or IV

Question 59

What is used to determine the initial dose of thyroid hormone replacement in lymphocytic thyroiditis?

Answer 59

TSH is the best likely although often do do a weight based dosing initially primary problem at the level of the thyroid gland therefore the other ones aren't reliable - need to depend on TSH

Question 60

53. Which is an indication of delayed puberty? a. 15 yo girl with amenorrhea b. 12 yo girl with no axillary hair c. 13 yo boy with no public hair d. 15 yo boy with no voice change

Answer 60

voice change? | they are all wrong

Question 61

types of diabetes

Answer 61

``` 1 2 3 mody - autosomal dominant 4 CF related diabetes 5. secondary diabetes ``` 3 generations of diabetes without classic features of type i or 2 then reasonable to test for MODY, advantage they can sometimes be managed with sulfonylurea

Question 62

Diabetes development

Answer 62

much quicker in kids, can end up on insulin very quickly doses of insulin go way up in puberty health of the beta cells determines what happens

Question 63

consider T2Dm when

Answer 63

BMI >85, high risk ethnic, exposure to diabetes in utero, fhb of type 2, clinical features of insulin resistance, children on psychotropic meds

Question 64

insulin resistance

Answer 64

``` waist circumference (measure in oske at umbilicus) acanthosis nigricans ```

Question 65

PCOS

Answer 65

irregular menses clinical or biochemical signs of increased androgen 30% of women with PCOS will have IGT or T2DM by the 3rd decade of life don't use U/S for PCOS diagnosis

Question 66

DM

Answer 66

family history more in type 2 ethnic more likely type 2 acanthosis type 2 age older Type 2 (13-15) 8-19 for type 1

Question 67

to tell between type 1 and 2

Answer 67

c peptide (high or normal in type 2) and antibodies (present in type 1)

Question 68

classification of diabetes

Answer 68

fasting blood sugar 6-7, but 2 hour is normal (<7.8) - impaired fasting glucose fasting blood sugar is normal, but 2 hour between 7.8-11 : impaired glucose tolerance everything else is diabetes !!

Question 69

kids with fasting blood sugar every 2 years

Answer 69

> 3 risk factors in no pubertal or 2 risk factors in pubertal obesity, member of high risk ethnic group, FHx of T2Dm and/or exposure to diabetes in utero, signs/symptoms of insulin resistance , IFG or IGt or use of anti-psychotic medications/atypical neuroleptics OGTT if BMI>99th or multiple risk factors

Question 70

based on HgA1c treatment

Answer 70

M9% metformin, >9% insulin metformin start at 250 then increase insulin can likely get by with once/day insulin, also some pre mixed options type 2 - start to monitor for complications right away, more likely to have them early on CDI guidelines - read them

Question 71

type 1 diabetes

Answer 71

prevalence 0.4% of individuals <18 years | increased risk with family members sibling 5% father 6-8% mother 2-3 % identical twin 30-50%

Question 72

Etiology

Answer 72

viral, mild protein, others | beta cells die over time

Question 73

target ranges of sugar for different ages

Answer 73

age <5 year old - pre meal 6-10 6-12 4-10 13-18 4-7

Question 74

DKA

Answer 74

decreased by 2-3 mmol/H for Na

Question 75

hyperglycemic hypoerosmolar syndrome

Answer 75

severe hyperglycemia high osmoses absence of ketones - HCO3 >15 mmol/L, urine ketones negative or trace mostly a fluid deficit - this is how the treatment differs wait several hours before insulin start insulin at lower rate

Question 76

type 1 diabetes

Answer 76

when you are sick don't stop insulin how much extra they need depends on total daily insulin blood glucose 2-4 hours, urine/blood ketones q2-4 hours (if sugar >14), never omit insulin reduce the doses if they are not eating much if high then give extra depending on ketones TDD - add all the types up TDD 12+ +4+8 - 30 units therefore need an extra 20% at that moment

Question 77

surgical abdomen T1DM what to do

Answer 77

emergenc surgery check glucose, acid base status, correct hyperglycaemia IV fluids with dextrose and insulin infusion is generally what we do (0.02 units/kg/hour) titrate it downward)

Question 78

diabetes

Answer 78

exercise - either need to cut down on insulin or increase food depends on timing