Endocrinology Flashcards

1
Q

Default pattern of differentiation of the genital system

A

Phenotypic female

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2
Q

Result of presence of androgens

A

Male external genitals

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3
Q

Result of presence of mullerian inhibiting factor

A

Regression of Female internal duct structures

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4
Q

Sequence of male pubertal development

A

Testicular growth
Pubarche
Penile growth
Peak height velocity

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5
Q

First sign of pubertal development in males

A

Testicular enlargement

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6
Q

Sequence of female pubertal development

A

Thelarche (breast)
Pubarche
Peak height velocity
menarche

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7
Q

Age of delayed puberty

A

Boys: 14 yo
Girls: 13 yo

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8
Q

Most likely cause if delayed puberty in boys

A

Constitutional delay

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9
Q

Premature adrenarche

A

Androgenic sexual characteristics (hair, acne, odor) without estrogenic sexual characteristics (breast, menarche)

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10
Q

Premature thelarche

A

Before 8 yo

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11
Q

Premature testicular growth

A

Before 9 yo

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12
Q

Precocious puberty
Cafe-au-lait with jagged borders
Fibrous dysplasia (radiolucent regions on bone)

A

McCune Albright syndrome

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13
Q

Phenotypic female
Genetic male (XY)
No male external genitalia
Blind vagina
No uterus
X-linked

A

Androgen insensitivity syndrome

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14
Q

Most common cause of adrenal insufficiency in infants

A

Congenital adrenal hyperplasia

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15
Q

No ambiguous genitalia in males
Excessive scrotal pigmentation

Ambiguous genitalia and No palpable testes in females
Posterior labial adhesions
Clitoral hypertrophy

A

Congenital adrenal hyperplasia

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16
Q

Most common cause of CAH

A

21-hydroxylase deficiency

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17
Q

First-line diagnostic test for CAH

A

17-hydroxyprogesterone levels
(Elevated with 21-hydroxylase deficiency)

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18
Q

Management for CAH

A

Dextrose containing fluids
Mineralocorticoids (fludracortisone)
Corticosteroids (hydrocortisone)

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19
Q

Hyperpigmentation
Hyperkalemia
Hyponatremia
High ACTH

A

Primary adrenal deficiency

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20
Q

Midline defects
Low ACTH

A

Secondary adrenal insufficiency

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21
Q

Diagnosing and managing primary and secondary adrenal insufficiency

A

AM cortisol
-if < 3, confirmed primary
-if 3-15, do ACTH stim test

ACTH stim test
-if cortisol < 18 — primary
-if cortisol > 18 — secondary

Primary - hydrocortisone + fludricortisone
Secondary - hydrocortisone (function normal)

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22
Q

Most common cause of Cushing syndrome

A

Exogenous steroids

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23
Q

Gold standard for confirming hypercorticolism

A

24-hour urinary free cortisol excretion

> 100mcg/day — confirms Cushing’s

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24
Q

Work up for Cushing’s

A

24 hr free urinary cortisol
Or late night salivary/plasma cortisol
Or Dexamethasone suppression test

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25
Q

Next step If urine free cortisol elevated

A

Serum ACTH level

-if elevated — MRI head
-if low — MRI adrenals

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26
Q

Diabetes insipidus
Exophthalmus
Lytic bone lesions
Recurrent otitis media

A

Langerhans Cell Histiocytosis
(Posterior pituitary disease)

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27
Q

Time if peak growth velocity

A

Around SMR 3 in boys and girls

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28
Q

Peak growth velocity for girls

A

1.5 years before menarche at SMR3

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29
Q

2 correct scenarios for growth hormone deficiency

A

Space-occupying lesion
Congenital

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30
Q

Micropenis
Hypoglycemia
Short stature
SOD
breech presentation
Jaundice

A

Congenital growth hormone deficiency
(Typically around 6-12 mo)

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31
Q

Decrease in growth rate
Early teen
Delayed onset of puberty
Bone age below chronological age

A

Constitutional growth delay

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32
Q

Best assessment for constitutional growth delay

A

Compare bone age to chronological age
(Bone < chronological)

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33
Q

Disproportionate short stature

A

Achondroplasia

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34
Q

Premature closure of growth plates due to increased androgens

A

Premature puberty

35
Q

Most important determinant for ultimate adult height

A

sexual maturity rating

36
Q

Tall stature
Macrocephaly
Cognitive deficits
Parents not tall

A

Soto’s syndrome

37
Q

Most common cause of congenital hypothyroidism

A

Thyroid dysgenisis

38
Q

Poor feeding
Prolonged jaundice
Constipstion
Hypotonia
Hoarse cry
Macroglossia
Umbilical hernia
Large anterior fontanelle

A

Congenital hypothyroidism

39
Q

Treatment for congenital hypothyroidism

A

PO levothyroxine 10-15 mcg/kg/day

By 2 weeks of age
mixed in any liquid but soy formulas (reduces absorption)

40
Q

Low total T4
Normal free T4 and TSH

A

Total binding globulin deficiency

X-linked

No treatment

41
Q

Low/normal fT4, high TSH
Anti-TPO Ab

A

Hashimoto thyroiditis

42
Q

Most common cause of hyperthyroidism

A

Graves’ disease

43
Q

Bulging eyes
Emotional lability
Weight loss
Sleep disturbance
Lid lag

A

Grave disease

44
Q

Treatment for Graves’ disease

A

Methimazole

PTU - not preferred in children or adolescents (risk for hepatitis, neutropenia, drug rashes)

45
Q

Irritability, tremors, tachycardia in immediate newborn period
At risk for cardiac arrhythmias

A

Neonatal thyrotoxicosis
(Low TSH, high fT4)

Tx: methimazole

46
Q

Single midline firm solitary mass
normal thyroid function
Move upward with tongue protrusion

A

Thyroglossal duct cyst

47
Q

Not midline neck mass
Abnormal thyroid function tests

A

Thyroid nodules

Diagnostic 1st step: thyroid US

48
Q

Criteria for diagnosing diabetes

A

HbA1c > 6.5%
Random glucose > 200
Fasting glucose > 126
2-hr glucose tolerance test > 200

49
Q

Top 2 triggers of DKA

A

Poor compliance
Intercurrent illness

50
Q

Screening criteria for type 2 DM

A

BMI > 85th percentile

Family history of T2DM in 1st or 2nd degree relative
High-risk race or ethnicity
Signs of insulin resistance

51
Q

Preferred screening test for T2DM

A

Fasting plasma glucose

52
Q

Treatment for T2DM

A

1) non-pharmaceutical
2) Metformin
3) insulting if A1c > 8.5 or BG > 250

53
Q

Screening for T2DM complications

A

At time of diagnosis and annually

Eye exam
Microalbuminuria
Blood pressure
Lipids

54
Q

Metabolic syndrome

A

Obesity
Dyslipidemia
Hypertension
Glucose intolerance

55
Q

Causes of Hypercalcemia

A

Williams syndrome
Ingestion (vitamin A and D, Thiazide)
Skeletal disorders
Hyperparathyroidism

56
Q

Management for Hypercalcemia

A

High volume fluids
Lasix
EKG
Calcitonin

57
Q

Management for hyperparathyroidism

A

Calcitriol
Vitamin D

58
Q

Causes of Hypocalcemia

A

Pseudohypoparathyroidism
Intake
Immune deficiency (DiGeorge)
Nephrotic syndrome
Kidney insufficiency

59
Q

Bone pain
Anorexia
Decreased growth rate
Widening of wrist and knees
Delayed eruption of teeth
Bowed legs
Enlarged Costcochondral junctions
Softening of skull bones
Elevated alk phos

A

Rickets

Deficient mineralization of bone at growth plate

60
Q

3 type of calcipenic rickets

A

Vitamin D deficient
Vitamin D dependent
Hereditary vitamin D resistant

PTH is always elevated

61
Q

Most common type of rickets

A

Vitamin D deficient

62
Q

Cause of rickets in liver disease

A

Reduced availability of bile salts
Decreased absorption of vitamin D

63
Q

Cause of vitamin D dependent rickets

A

Inadequate renal production of 1. 25 dihydroxy vitamin D

64
Q

Cause of hereditary vitamin D resistant rickets

A

End organ resistance to vitamin D

65
Q

Management of vitamin D deficient rickets

A

Vitamin D
Calcium

66
Q

Management of vitamins D dependent tickets

A

Vitamin D2
1, 25 dihydroxy vitamin D

67
Q

Most common form of phosphopenic rickets in children and adolescents

A

Renal phosphate wasting

68
Q

Most common cause of rickets in industrialized countries

Management

A

X-linked hypophosphatemic rickets

Tx: phosphate supplementation
1, 25 dihydroxy vitamin D (calcitriol)

69
Q

Phos low/normal
Ca low/normal
ALP high
PTH high
25-vit D low
1, 25 vig D normal

Underlying cause

A

Vitamins D deficient rickets

Nutritional deficit or Poor UV light exposure

70
Q

Phos low/normal
Ca low
ALP high
PTH high
25-vit D normal
1, 25 vig D low

Underlying cause

A

Vitamin D dependent rickets

1-alpha hydroxylase deficiency

71
Q

Phos low/normal
Ca low
ALP high
PTH high
25-vit D normal
1, 25 vig D very high

Underlying cause

A

Vitamin D resistant rickets

End organ resistance

72
Q

Phos very low
Ca normal
ALP high
PTH normal
25-vit D normal
1, 25 vig D normal

Underlying cause

A

X-linked hypophosphatemic tickets

Defect in tubular reabsorption of phosphate

73
Q

Phos high
Ca decreased
ALP high
PTH high
25-vit D low
1, 25 vig D low

Underlying cause

A

Renal disease

Defect in phosphate excretion

74
Q

Confirmatory test for Graves syndrome

A

Thyroid-stimulating immunoglobulin

75
Q

Single central maxillary incisor
Delayed eruption of teeth

A

Growth hormone deficiency

76
Q

Most common cardiac defect in Turner syndrome

A

Nonstenotic bicuspid aortic valve

77
Q

SMR staging for breast development

A

1: no breast
2: breast and papilla elevated as small mound
3: breast and papilla with slightly larger mound beyond Arellano
4: areola and papilla form separate mound
5: mature.

78
Q

SMR staging for pubic hair development in females

A

1: no pubic hair
2: sparse. Limited to labia major
3: darkly pigmented. Slightly curly. Spread to moms pubis
4: adult hair. Not medial thigh
5: mature. Spread to medial thigh

79
Q

Central DI
Optic atrophy
Deafness

A

Wolfram syndrome

80
Q

Hypoglycemia
Direct hyperbilirubinemia
Micropenis

A

Hypopituitarism

81
Q

Obesity
Hypogonadism
Intellectual disability
Retinitis pigmentosa

A

Laurence-moon-biedl syndrome
(Bardet-biedl syndrome)

82
Q

Normal growth velocity
Normal bone age
Family h/o short stature

A

Familial short stature

83
Q

Normal TSH
Low total T4
Normal free T4

A

Thyroxine-binding globulin deficiency