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ENR Biweekly 3 > Kauflers- Genetic Disorders of Endocrine System > Flashcards

Kauflers- Genetic Disorders of Endocrine System Flashcards

1
Q

precocious puberty in 5 year old girl (breast buds); LH and FSH high; everything else WNL

A

idiopathic central precocious puberty

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2
Q

how to suppress LH/FSH from the pituitary

A

Leuprolide (in depot form)

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3
Q

GnRH agonist in the short term; antagonists long term

A

Leuprolide

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4
Q

LH/FSH low means what

A

pituitary not functioning

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5
Q

8 yr old boy w/ larger private parts; LH/FSH low; testosterone high (beta-hcg high)

A

hCG tumor

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6
Q

what tells the Leydig cells to make testosterone

A

hCG

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7
Q

what cells are the ones who actually tell the testes to enlarge

A

sertoli cells

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8
Q

how to treat hCG tumor

A

remove it

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9
Q

An hcg tumor in girls would only stimulate the ____ cells of the ovary, not the _____ cells

A

stimulate the theca cells; not the granulosa cells (need both to make estrogen)

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10
Q

would a girl with hCG tumor get precocious puberty

A

no (only the theca cells are stimulated)

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11
Q

baby born with empty scrotum; 46XY; normal size penis and scrotum but no palpable testes; what to do?

A

give shots of hcg (will stimulate Leydig cells to make testosterone—helps testes descend into scrotum)

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12
Q

Boy with precocious puberty: big testicles, big penis, etc
Also has “laughing seizures”, also called gelastic seizures

A

Hypothalamic hamartoma

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13
Q

congential malformation, it acts an as ectopic GnRH pulse generator, which stimulates the pituitary gland

A

hypothalamic hamartoma

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14
Q

how to treat hypothalamic hamartoma

A

Leuprolide

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15
Q
A

hypothalamic hamartoma

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16
Q

17 yr old girl w/out period yet; breast growing and pubic hair w/ normal height (mom didn’t have menses until 18); normal labs

A

constitutional delay of growth (late bloomer)

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17
Q

how to jump-start puberty

A

give progesterone for 14 days and then after that should have withdrawal bleed

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18
Q

14 yr old male with small penis and short stature

A

delayed puberty

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19
Q

<4 mL of testes means what

A

hasn’t started puberty

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20
Q

at least some testicular enlargement and pubic hair reassures you of what

A

HPG axis in tact

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21
Q

how to jump-start puberty in boys

A

IM testosterone (low-dose)

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22
Q

what happens when testosterone shots are given; and what happens when shots are stopped

A

testes will enlarge; penis will enlarge and growth spurt after shots are stopped

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23
Q

low aldosterone and cortisol; elevated androgens

A

21-alpha-hydroxylase deficiency (CAH)

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24
Q

low aldosterone and cortisol; elevated androgens AND high bp

A

11-beta-hydroxylase deficiency (CAH)

25
Q

Complete loss of the ability to make aldosterone or cortisol; makes too many androgens

A

21-alpha-hydroxylase deficiency

26
Q

baby is a “salt-waster”
17-hydroxylase very high on newborn screen

A

21-alpha-hydroxylase deficiency (CAH)

27
Q

virilization of female infant

A

21-alpha-hydroxylase deficiency

28
Q
A

congenital adrenal hyperplasia

29
Q
A

congenital adrenal hyperplasia

30
Q

high blood pressure (due to DOC buildup) and NO salt wasting; virilization of baby girl

A

11-beta-hydroxylase deficiency

31
Q

16 yr old w/out period; clitoris has enlarged and labia are becoming rugated like scrotum; 2 undescended testes; 46 XY

A

5-alpha-reductase deficiency

32
Q

16 year old girl hasn’t had a period yet
Normal breast dev, very tall for a girl, normal clitoris, normal vagina, very little pubic and axillary hair; gave progesterone but nothing happened

A

complete androgen insensitivity

33
Q

X-linked defect in the androgen receptor
normal amounts of testosterone (and DHT) but the body has no receptors to notice it
Labs: Normal/High testosterone levels, normal/high DHT levels, normal LH/FSH, karyotype 46 XY
2 undescended testicles

A

complete androgen insensitivity

34
Q

continue the assigned gender as a girl, remove the testicles and begin estrogen treatment, or leave the testicles in and monitor for malignancy (Seminoma)

A

treatment for complete androgen insensitivity

35
Q

Fat cells can turn testosterone into estradiol with ____; so that’s why can leave undescended testicles to further increase estrogen production (in complete androgen insensitivity)

A

aromatase

36
Q

This child was born a genetic female, named Jennifer. Before age 3, she began insisting that she was a boy. She would insist on urinating while standing up, dress in boy’s clothes, wanting to grow a penis. This was appropriately diagnosed and counseled by a child psychiatrist as ____

A

gender dysphoria

37
Q

how to halt puberty

A

Leuprolide

38
Q

taking _____ is EXTREMELY contraindicated with his other risk factors for blood clots, such as smoking

A

estrogen

39
Q

low AFP
low estriol
high hCG
high inhibin

A

Down’s syndrome

40
Q

short stature, high incidence of autoimmune thyroid disease

A

endocrine problems

41
Q

pt with type I diabetes that is now tired all the time

A

hypothyroidism

42
Q

Isolated GnRH deficiency in the hypothalamus

A

Kallman’s syndrome

43
Q

Low LH, low FSH, but other pit hormones WNL

A

Kallman’s syndrome

44
Q

small testes; undescended testes; NO sense of smell

A

Kallman’s syndrome

45
Q

Very little pubic/axillary hair
No growth spurt
Won’t get past Tanner 1-2
No GnRH, so low LH/FSH/T
Midline/renal/neuro deficits
Only one kidney
Cleft lip or palate
Abnormal eyes/ears/teeth
ANOSMIA!!!!!!!!!!!

A

Kallman’s syndrome

46
Q

45 XO
webbed neck; broad chest
short stature always

A

Turner’s syndrome

47
Q
A

Turner’s syndrome

48
Q

due to ovarian failure; high LH/FSH and low estradiol

A

Turner’s syndrome

49
Q

often see short stature and webbed neck; coarctation of aorta

A

Turner’s syndrome

50
Q

to treat Turner’s syndrome

A

growth hormone
estrogen

51
Q

47 XXY
psych issues (fire setting behavior)
tall and slim w/ small testes
gynecomastia

A

Klinefelter’s syndrome

52
Q

tall and slim

A

Klinefelter’s syndrome

53
Q

due to primary testicular failure
high LH/FSH and low testosterone

A

Klinefelter syndrome

54
Q

long-term follow up increased risk for breast cancer

A

Klinefelter syndrome

55
Q

16 yr old girl w/out period
short
diagnosis?
LH/FSH levels?

A

Turner’s
high FSH/LH
low estradiol

56
Q
A

Klinefelter syndrome
high LH/FSH
low testosterone

57
Q
A

aldosterone low
renin high

58
Q
A

Leuprolide (GnRH agonist then antagonist)

ENR Biweekly 3 (14 decks)

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