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2023 RC Blue's Clues > Endocrinology > Flashcards

Endocrinology Flashcards

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1
Q

Male vs female presentation of CAH

A
  1. Girl with virilization at birth +/- vomiting and dehydration
  2. Boy with vomiting, dehydration, hyponatremia, hyperkalemia
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2
Q

Electrolyte derangement in CAH

A

LOW sodium (think salt wasting form)
HIGH potassium

salt wasting happens around 1-2 weeks of life

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3
Q

Most common mutation in CAH

A

21-beta-hydroxylase deficiency

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4
Q

NMS test for CAH

A

measures 17 OHP
high in CAH

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5
Q

6 year old with vaginal bleeding, irregular hyperpigmented macules, bony dysostosis

A

Mccune Albright syndrome

look for hyperfunctioning polyendocrinopathy

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6
Q

CAH genetics

A

autosomal recessive

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7
Q

CAH physical exam findidngs neonate

A

ambiguous genitalia female
normal appearing male

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8
Q

timing for salt wasting in classic CAH

A

typically occurs at 7-14 days of life

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9
Q

stress dose steroids

A

moderate: 30-50mg/m2
severe: hydrocort 100mg/m2 (max 100mg) followed by 25mg/m2 q6h

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10
Q

Infant and Maternal Risk Factors for Rickets

A

Maternal: Vitamin D deficiency (dark skin pigmentation, full body clothing, high latitude, low Vit D diet), low Ca diet (poverty, malnutrition)

Infant: lack of Vit D supp, prolonged breastfeeding > 6mo without complementary feeding or supplementation PLUS same as maternal factors

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11
Q

Normal ages for puberty

A

Boys 9-14
Girls 8-13

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12
Q

Order of puberty for boys and girls (+ which SMR stage is peak growth potential for each?)

A

Girls: Boobs, Pubes, Grow, Flow
- thelarche is usually first sign of puberty (10-11y) -> pubic hair (pubarche) 6-12 months later -> menarche ~ 2.5 years after onset (breast tanner stage 4-5)
- Peak height velocity occurs breast stages II-III (typically 11-12y) and always precedes menarche
- 2cm growth potential after menses

Boys: the balls get hairy, the penis shoots up
- Growth of testes (> 4 ml in volume or 2.5cm in diameter) and thinning of scrotum are first signs of puberty (11-12y) -> pigmentation of scrotum and growth of the penis -> pubarche
- Acceleration of growth begins after puberty and is maximal at genital stages IV-V (13-14y)

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13
Q

SMR staging - breasts

A

Breast Development
I - Prepubertal; elevation of papilla only
II - Breast buds are noted or palpable with enlargement of the areola
III - Further enlargement of the breast and areola with no separation of the contour
IV - Projection of areola and papilla to form secondary mound above the breast level
V - Adult contour breast with projection of papilla only

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14
Q

SMR staging - pubic hair

A

I - Prepubertal; no pubic hair
II - Sparse growth of long, straight or slightly curly minimally pigmented hair
III - Considerably darker and coarser hair spreading over the mons pubis
IV - Thick adult-type hair that does not yet spread to the medial surface of the thighs
V - Hair is adult in type and is distributed in the classic inverse triangle for females and diamond for males

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15
Q

SMR staging - males

A

I - Prepubertal; testicular length < 2.5cm
II - Testes > 2.5cm; scrotum thinning and reddened
III - Penile growth in width and length and further testis growth
IV - Penis and testes further enlarged and scrotal skin darkens
V - Genitalia adult in size and shape

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16
Q

Bone age in constitutional growth delay

A

significant bone age delay (2 SDs below the mean, ~1.5-2 y delay as a teen)

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17
Q

Hypogonadotropic Hypogonadism DDx

A

Low FSH/LH + Low Testosterone/Estrogen

  • CNS disorders (craniopharyngiomas, gliomas, prolactinomas, pituitary adenomas)
  • Kallman syndrome (gonadotropin deficiency and cannot smell)
  • Anorexia
  • Hypothyroidism
  • Prader Willi
  • CHARGE syndrome
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18
Q

Hypergonadotrophic Hypogonadism (LH, FSH, T/E levels and common causes)

A

High LH/FSH, LOW Testosterone and Estrogen

  • Turners Syndrome
  • Premature Ovarian Failure
  • Klinelfelter Syndrome
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19
Q

Workup for Delayed Puberty

A

Bone age (will be < chronological age if constitutional)

FSH/LH, and E or T to determine if gonadal failure vs. secondary to hypothalamic/pituitary

If gonadal do karyotype for Klinefelter in boys, Turner in girls

Prolactin
TSH in girls

Consider:
Cortisol, GH-IGF-1 axis assessment, cranial imaging if multiple deficiencies
AUS in girls for internal structures (androgen insufficiency, XY)

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20
Q

Central Precocious Puberty

A

Early maturation or HPA axis

Caused by CNS lesions, can be idiopathic

MR in all boys!
MR in girls <6yrs

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21
Q

Peripheral Precocious Puberty : LH, FSH, sex steroid levels?

A

LH and FSH low, estrogen and testosterone HIGH

  • Can be either production from gonads or adrenals, or exogenous source
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22
Q

DDx Peripheral Precocious Puberty

A

Girls:
- ovarian cysts or ovarian tumors
- McCune Albright (coast of maine cafe au lait spot, precocious puberty and polyostic fibrous dysplasia)
- estrogen secreting adrenal tumours
- late onset CAH (early adrenarche with PCOS like picture)

Boys:
- Leydig cell tumors
- hCG-secreting germ cell tumors
- familial male precocious puberty (due to changes in LH receptor – genetic cause)

Both girls & boys:
- primary hypothyroidism (high levels of TSH directly stimulate FSH receptors)
- exogenous sex steroids
- adrenal pathology ( w/u would include raised DHEAS or adrenal CT)

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23
Q

Essential investigation for boys with central precocious puberty?

A

Head MR!!
(consider head MR in girls with central precocious puberty if <6)

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24
Q

Triad of McCune Albright Syndrome

A

Triad (need 2/3 to make Dx):
- Café au lait macules (coast of Maine vs. smooth border NF-1 coast of California)
- Peripheral precocious puberty ( May also have thyroid and adrenal gland involvement w/ hyperthyroid and cushings)
- Fibrous dysplasia of multiple bones -> rickets/osteomalacia + phosphaturia

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25
Premature Thelarche
SMR II-III breasts NO workup needed
26
Gynecomastia
Incidence peak at age 14y, Tanner stage 3-4 and testicular volume 5-10ml May involve only 1 breast or both breasts at different times Rarely persists >2yrs No workup needed
27
Androgen Insensitivity
XY Phenotypically female. if complete, will have start of vagina Will develop breasts, but not responsive to androgens so likely no pubic hair Will not have a period -> because internal organs are male!
28
5- alpha reductase deficiency
XY Phenotypically female, with internal testes + vas deferens (empty into blind pouch/vaginal canal) Will experience voice deepening, male puberty don'thave DHT so not as much pubic hair/axillary hair/sweat/deep voice
29
When to start evaluating for comorbidities with obesity (BMI)? What conditions do you need to screen for?
>85th% workup for: Dysglycemia (OGTT (preferred), Fasting glucose, HbA1c) Dyslipidemia Hypertension NAFLD (ALT) OSA Psychiatric/Mood
30
Ages for Hyperlipidemia Screening? RF that require screening?
If increased risk start screening at age 2 For patients who are >85th% age 9-11, again at age 17-21 Children at increased risk: - Family history of premature CVD (male relative < 55y; female relative < 65 y) - Child with other CV risk factors (obesity, HTN, smoking) - Child with high-risk condition: ex. Diabetes, CKD, post stem cell or heart transplant etc
31
Treatment for Hyperlipidemia
- Diet and lifestyle x 6 mo - If LDL remains >4.9 (no RF), >4.1 (w/ fam hx or 1RF), or >3.4 (2RF) start statin treatment
32
PCOS Diagnostic Criteria in Teens
1. Abnormal menstrual pattern (persistant x 1-2yrs) 2. Clinical/biochemical evidence of yperandrogenism (hirsutism, elevated testosterone)
33
Laboratory findings in PCOS
Increased LH Low or normal FSH High LH:FSH ratio (not diagnostic) Elevated free and total testosterone Normal DHEAS, 17-OHP (if high, image for adrenal tumor as alternate cause for presentation)
34
Management of PCOS
OCPs are first line therapy
35
Congenital Hypothyroidism Clinical Manifestations
- prolonged neonatal jaundice (indirect) - feeding difficulties, poor appetite - apneic episodes - sleepy - constipated - large umbilical hernias - USUALLY ASYMPTOMATIC AT BIRTH BECAUSE OF TRANSPLACENTAL PASSAGE OF MATERNAL T4
36
Interpretation of TSH values in Newborns
TSH > 17 is elevated If TSH 17-40, repeat TSH with free T4 (because its most often a false positive) If TSH > 40, repeat labs, start thyroxine immediately and imaging (nuclear scan/ultrasound) for diagnosis
37
Treatment of Congenital Hypothyroidism
- Start therapy within 7-14d - Tx with Levothyroxine 10-14mcg/kg - DO NOT GIVE SOY FORMULA
38
Frequency of TSH/T4 monitoring in Congenital Hypothyroidism?
TSH and Free T4 should be done q1-2 months in the first 6 months of life then q2-4 months until age 3
39
What is the most common cause of goiter in kids?
Chronic Lymphocytic thyroiditis (Hashimotos)
40
Chronic Lymphocytic Thyroiditis - clinical presentation
Growth failure Weight preservation/gain (does not cause obesity) Dry skin and hair Diffuse goiter Bradycardia Cold intolerance Delayed or precocious puberty Decline in school performance Muscle hypertrophy and weakness; delayed relaxation phase of deep tendon reflexes Myxedema Goiter (euthyroid goiter is more common than hypothyroidism)
41
Chronic Lymphocytic Thyroiditis: Workup + Treatment
Elevated TSH, Low free T4 (primary hypothyroidism) Antithyroid perixodase antibidodes (TPOAb), TgAb Imaging needed only if nodule or asymmetric goiter Tx: treat if TSH >10 with Levothyroxine
42
Conditions associated with Graves Disease
DM, celiac, primary adrenal insufficiency SLE, vitiligo, RA, myasthenia gravis Turner syndrome and T21
43
Clinical presentation of Graves Disease
Weight loss despite large appetite Heat intolerance, sweating Tremor Proptosis and periorbital edema, lid lag - results from Abs against TSHR-like protein in retro-orbital connective tissue Exophthalmos (antibodies against a TSHR-like protein in retro orbital connective tissue) – less common in children Poor concentration, fidgety, hyper Increased frequency of bowel movements Palpitations, tachycardia *Fatigue Diffuse Goiter- usually without palpable nodules
44
Labwork in Graves
TSH low Free T3/T4 high ALP high Thyrotropin receptor stimulating Ab high
45
Maternal/Neonatal Graves
Cord blood: diagnosis with high TRAb titres. Infants may be asymptomatic at the time of delivery. At 48 hours of age, or sooner if symptomatic or discharged, Infant blood may be sent for: TSH FT4, FT3 These levels may be repeated at 5-7 days post delivery as an outpatient Elevated FT4, FT3 and a suppressed TSH level indicate hyperthyroidism If hyperthyroid-> treat with methimazole! 0.2-0.5mg/kg/d If hypothyroid-> continue to monitor labs
45
First line treatment for Graves
Methimazole
46
Causes of Congenital Goiter
Maternal: - Maternal methimazole or propylthiouracil Neonatal graves: - Transplacental passage of maternal TSH receptor stimulating ab - Usually infant has symptoms of hyperthyroidism with small goiter Congenital hypothyroidism - Intrinsic defect in synthesis of thyroid hormone - Newborn metabolic screen - Treatment with thyroid hormone to start immediately Pendred syndrome - Familial goiter + neurosensory deafness Iodine deficiency - Rare cause of congenital goiter but still seen in developing countries - Severe iodine deficiency in early pregnancy can cause neurologic damage during fetal development Teratoma - Consider if the goiter is lobulated, asymmetric, firm, or unusually large
47
Causes of Acquired Goitre
Chronic Lymphocytic thyroiditis (Hashimotos) Graves Amiodarone Lithium
48
Tests for Cushings Syndrome
Midnight Salivary Cortisol Dexamethasone suppression test (1mg Dex at midnight and then test serum cortisol at 8AM) - If <50 = normal/ NOT cushings
49
Test for X linked adrenoleukodystrophy
Serum VLCFA All males need MR at time of diagnosis
50
HC dosing for AI: - Mild illness - Severe illness/surgery
Mild: 30-50mg/m2/d Severe/Surg: 100mg/m2 dose x 1 then 100mg/m2/day divided q6hrly
51
Who is at risk of AI from steroid use?
Systemic use >14d ICS >3mo (high dose, fluticasone) Swallowed ICS >1mo Those on CYP3A4 inhibs (antifungals, clarithromycin)
52
Kid has bad eczema refractory to treatment on his scalp, petechiae noted in the area, and has DI - what is the underlying condition?
LCH (pituitary stalk thickening causes DI in these kids)
53
Treatment of Central DI
DDVAP
54
Treatment of Nephrogenic DI
Thiazide diuretics
55
________serum osmolality with ______-osmolar urine suggests Central or Nephrogenic DI ______ serum osmolality with _____-osmolar urine suggests compulsive water drinking
High serum osmolality with hypo-osmolar urine suggests Central or Nephrogenic DI Low serum osmolality with hypo-osmolar urine suggests compulsive water drinking
56
Water Deprivation Test
First, the patient is deprived of all fluids for up to 8 hours and urine osmolality is measured after each void - If the patient fails to concentrate urine during the water deprivation, DI can be diagnosed - If the patient is able to concentrate urine, compulsive water drinking can be diagnosed Following this deprivation, synthetic ADH (DDAVP) is administered - If the patient responds and begins concentrating urine, central DI is confirmed - Alternatively, if there is no response to ADH, nephrogenic DI is diagnosed
57
Diagnostic Criteria for T1DM
FBG >7 OR A1C >6.5 OR 2hBG in a 75g OGTT >11.1 OR Random BG >11.1
58
A1c targets for T1DM
7.5
59
A1C targets for T2DM
7
60
Starting outpatient Insulin Therapy
Initial daily insulin dose: 0.4-0.6 units/kg/d Intermediate & Rapid-acting regimen: Divided 2/3 before breakfast and 1/3 before supper Each dose divided 2/3 IAI, 1/3 RAI For example, for a child who weighs 30 kg, the total initial daily insulin dose based on 0.5units/kg/day would be 15 units; 10 units given before breakfast, divided as 7 units IAI and 3 units RAI; 5 units total before dinner, divided as 3 units IAI and 2 units RAI For basal/bolus regimen: total daily dose is divided 50% LAI, 50% RAI
61
DKA Lab Findings
hyperglycemia (glucose > 11.1) metabolic acidosis (pH < 7.3 OR serum bicarb HCO3 < 15) ketonuria
62
Risk Factors for Cerebral Edema in DKA
- Young age - First presentation - More severe acidosis - Insulin prior to 1hr of fluids
63
Monitoring in DKA
Follow glucose, fluids, neuro-vitals, HR, BP Q1H Follow lytes, and gases q2-4h, corrected Na, osmolality, anion gap Want glu to fall <5 mmol/hr after the first hour
64
When to add glucose to IVF in DKA
Once glucose < 17, change fluids to D10NS OR glucose is < 25 and is decreasing by > 5mmol/hr
65
Per CPS, screening criteria for T2DM in Indigenous populations?
All 3 of the following: - indigenous patients - BMI > 85% expected for age - Age > 10 years old AND any one of the following: - Sedentary lifestyle - Children born to mothers who had gestational diabetes - 1st or 2nd degree relative with type 2 diabetes - Acanthosis nigricans - Dyslipidemia - Hypertension - PCOS
66
Screening test for T2DM
Fasting blood glucose (>7 = diagnostic)
67
Diabetes Canada Guidelines for Screening for T2DM
> 3 risk factors in non pubertal children beginning at 8 years of age OR > 2 risk factors in pubertal children. Risk factors include: -Obesity (BMI > 95% for age and gender) - Member of a high-risk ethnic group (e.g. African, Arab, Asian, Hispanic, Indigenous or South Asian descent) - 1st degree relative with T2DM and/or exposure to hyperglycemia in utero - Signs or symptoms of insulin resistance: acanthosis nigricans, hypertension, dyslipidemia, NAFLD (ALT >3x ULN or fatty liver on U/S) Also consider screening in children with any of the following conditions: PCOS, impaired fasting glucose, use of atypical antipsychotic medications SCREEN WITH A1C and FPG
68
APS 1 Triad
Addisons Chronic mucocutateous candidiasis Hypoparathyroidism
69
APS 2 Triad
Addisons T1DM Thyroid (autoimmune-hypo or hyper)
70
MEN1
Pituitary adenoma Parathyroid hyperplasia Pancreas tumors
71
MEN2
Thyroid Cancer Pheochromocytoma (Too Excited) Parathyroid hyperplasia Marfanoid (Too Tall)
72
When to worry about growth velocity?
<5cm/yr in patient >4yrs
73
Bone age in GHD
Delayed
74
Bone age in Turners
Normal until puberty, then delayed
75
What are the indications for GH therapy in short stature?
GHD Turner syndrome Chronic renal failure SGA with failure of catch up growth Idiopathic short stature (height < 2.25 SD)
76
Constitutional delay: growth velocity and bone age?
Growth velocity: normal Bone age: delayed
77
Familial Short stature: growth velocity and bone age?
Growth velocity: normal Bone age: normal
78
Growth Hormone Deficiency: growth velocity and bone age?
Growth velocity: slow Bone age: delayed
79
Albright Hereditary Osteodystrophy
PTH insensitivity: Hypocalcemia Hyperphosphatemia Psuedo-Hyperparathryoidism
80
Hypocalcemia Symptoms and Treatment
Symptoms: Muscle Cramps, Tetany Chvosstek Sign (Facial Tap), Trousseaus Sign (BP cuff and hand tetany) Abdominal Pain Seizure QTc prolongation Treatment (Severe or Symptomatic) 1. IV Calcium Gluconate 2. Calcitriol Discharge on PO elemental calcium and PO Calcitriol
81
Hypercalcemia Symptoms and Treatment
Symptoms: "Bones, Stones, Groans, Psychiatric Overtones" Increased fracture risk Nephrolithiasis Abdominal cramping, nausea, illeus, constipation Psychosis, Lethargy, Mood changes ECG = Short QTc Treatment: 1. Stop exogenous calcium 2. Hyperhydration: NS @ 2x maintenance 3. Lasix +/- Bisphosphonates to force calcium into bones
82
Rickets X Ray Findings
Cupping and Fraying of Metaphases Physeal Widening (Splaying) b Bowing of Long bones Decreased Bone mineralization Rachitic rosary.
83

2023 RC Blue's Clues (20 decks)

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