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Peds Boards > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

Testing for Cortisol Deficiency

A

24 hour urine cortisol
midnight salivary cortisol
dexamethasone suppression test

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2
Q

Hormone that causes onset of Puberty

A

GnRH

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3
Q

low total T4, normal free T4 and TSH

A

Thyroxine-binding globulin deficiency

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4
Q

Adrogen Exposure During Pregancy in first triemster

A

Wk 0-8: labial adhesion and clitoral enlargement

Wk 8-13: labial adhesion

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5
Q

virilization + HTN =

A

11B hydroxylase deficiency

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6
Q

virilization + salt wasting =

A

21 hydroxylase deficiency

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7
Q

incomplete virlizatoin + salt wasting =

A

3B hydroxysteroid dehydrogenase deficiency

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8
Q

Cushing Syndrome
Blue Nevi
Cardiac and skin myxomas
Sexual Precocity

A

Carney Complex

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9
Q

hypothalamic insufficiency
optic nerve hypoplasia
agenesis of the corpus callosum
optic nerve hypoplasia

A

Septooptic Dysplasia

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10
Q

Midfacial anomalies, think of

A

GH deficiency

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11
Q

most common tumor to have aqcuired pitutitary deficiencies

A

craniopharyngioma

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12
Q

Prader Willi Genetics

A

deletion from the father

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13
Q

infants with micropenis, think

A

GH deficiency

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14
Q

Growth Velocity is Normal
Bone Age is Delayed
Family History is Pubertal Delay

A

constitutional growth delay

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15
Q

Growth Velocity is Normal
Bone Age is Normal
Family History of Short Stature

A

Genetic/Familial Short Stature

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16
Q

Decreased Growth Velocity

Delayed Bone Age

A

GH deficiency or hypothyroidism

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17
Q

Schmidt Syndrome

A

T1DM
adrenal insufficiency
autoimmune thyroiditis

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18
Q

Gene on Y chromosome responsible for male phenotype

A

SRY

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19
Q

McCune Albright

A

precocious puberty
fibrous dysplasia
Cafe Au Lait Spots

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20
Q

Kleinfelter Syndrome

A

47XXY
intellectual disability
adrenarche occurs, but testes and penis remain small

21
Q

47XXX

A

normal female
speech and language delays by 2 years of age
tall and gangly

22
Q

What cancers are associated with Beckman Weideman

A

hepatoblastoma

Wilms Tumor

23
Q

Soto Syndrome

A

grows rapidly initially and then slows to a normal pace

“cerebral gigantism”

24
Q

Most Common Brain Lesion to cause precocious puberty

A

hypothalamic harmatoma

25
Q

Microcephaly
Growth Retardation
Syndactlyl
Mutation in Cholesterol Synthesis

A

Smith-Lemli-Opitz

26
Q

Most Common Cause of Congenital Hypothyroidism

A

Thyroid Dysgenesis

27
Q

enlarged posterior fontanelle

A

hypothyroidism

28
Q

Adrenoleukodystrophy

A

very long chain fatty acids

degerenative neurologic disorder, often starts with new-onset clumsliness

29
Q

Donohue Syndrome

A 
aka leprechaunism 
IUGR
hypoglycemia, insulin resistance
acthanosis nigricans
death before 1
30
Q

Kleinfelter has a risk of which cancer?

A

Breast Cancer

31
Q

Swyer Syndrome

A

XY pure gonadal dysgenesis

female at birth, but does not develop breasts or menstruation

32
Q

Prolactin increased by

A

antidopaminergic drugs

TRH

33
Q

Differential for Tall Stature

A

Klinefelter, Marfan, homocystinuria

34
Q

Central vs Peripheral Precocious Puberty

A

central: early maturation of HPG axis
peripheral: excess secretion of sex hormones from abnormal sources

35
Q

gelastic seizures

A

hypothalamic harmatomas

36
Q

Which part of puberty prematurity is NEVER normal

A

premature testelarche = brain tumor

37
Q

TBG increased with

A

pregnancy, OCP

38
Q

TBG decreased with

A

nephrotic syndrome

39
Q

APS1 (Whitaker Syndrome)

A

addison disease
autoimmune hypothyroidism
chronic mucocutaneous candidiasis

40
Q

Vitamin D Deficienct Rickets vs Familial Hypophosphatemic Rickets

A

VIt D = high PTH

FHR = normal PTH

41
Q

Scrotal Hematoma, think

A

Adrenal Hemorrhage

42
Q

Growth Failure Later in Childhood or Adolescense, think about

A

Craniopharyngioma

43
Q

Red-Green ColorBlindness, think

A

Kallman syndrome

44
Q

Barr Body

A

Kleinfelter

45
Q

when to evaluate males for short stature

A

growing less than 4cm/year

46
Q

5 alpha reductase deficiency

A

genetic males but females at birth; will have male sex charcteristics at puberty

47
Q

Complete Androgen Insensitivity Syndrome

A

phenotypic female, intra-abdominal testes

48
Q

Growth Hormone and Sudden Death, think

A

Prader-Willi

Peds Boards (21 decks)

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