Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

Kauflers- Genetic Disorders of Endocrine System Flashcards

(58 cards)

Start Studying
1
Q

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

A

idiopathic central precocious puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

how to suppress LH/FSH from the pituitary

A

Leuprolide (in depot form)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

GnRH agonist in the short term; antagonists long term

A

Leuprolide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

LH/FSH low means what

A

pituitary not functioning

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

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

A

hCG tumor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what tells the Leydig cells to make testosterone

A

hCG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A

sertoli cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

how to treat hCG tumor

A

remove it

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

would a girl with hCG tumor get precocious puberty

A

no (only the theca cells are stimulated)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

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

A

Hypothalamic hamartoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

hypothalamic hamartoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

how to treat hypothalamic hamartoma

A

Leuprolide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q
A

hypothalamic hamartoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

how to jump-start puberty

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

14 yr old male with small penis and short stature

A

delayed puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

<4 mL of testes means what

A

hasn’t started puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

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

A

HPG axis in tact

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

how to jump-start puberty in boys

A

IM testosterone (low-dose)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

low aldosterone and cortisol; elevated androgens

A

21-alpha-hydroxylase deficiency (CAH)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

low aldosterone and cortisol; elevated androgens AND high bp

Study These Flashcards
A

11-beta-hydroxylase deficiency (CAH)

25
Complete loss of the ability to make aldosterone or cortisol; makes too many androgens
21-alpha-hydroxylase deficiency
26
baby is a “salt-waster” 17-hydroxylase very high on newborn screen
21-alpha-hydroxylase deficiency (CAH)
27
virilization of female infant
21-alpha-hydroxylase deficiency
28
congenital adrenal hyperplasia
29
congenital adrenal hyperplasia
30
high blood pressure (due to DOC buildup) and NO salt wasting; virilization of baby girl
11-beta-hydroxylase deficiency
31
16 yr old w/out period; clitoris has enlarged and labia are becoming rugated like scrotum; 2 undescended testes; 46 XY
5-alpha-reductase deficiency
32
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
complete androgen insensitivity
33
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
complete androgen insensitivity
34
continue the assigned gender as a girl, remove the testicles and begin estrogen treatment, or leave the testicles in and monitor for malignancy (Seminoma)
treatment for complete androgen insensitivity
35
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)
aromatase
36
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 ____
gender dysphoria
37
how to halt puberty
Leuprolide
38
taking _____ is EXTREMELY contraindicated with his other risk factors for blood clots, such as smoking
estrogen
39
low AFP low estriol high hCG high inhibin
Down's syndrome
40
short stature, high incidence of autoimmune thyroid disease
endocrine problems
41
pt with type I diabetes that is now tired all the time
hypothyroidism
42
Isolated GnRH deficiency in the hypothalamus
Kallman's syndrome
43
Low LH, low FSH, but other pit hormones WNL
Kallman's syndrome
44
small testes; undescended testes; NO sense of smell
Kallman's syndrome
45
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!!!!!!!!!!!
Kallman's syndrome
46
45 XO webbed neck; broad chest short stature always
Turner's syndrome
47
Turner's syndrome
48
due to ovarian failure; high LH/FSH and low estradiol
Turner's syndrome
49
often see short stature and webbed neck; coarctation of aorta
Turner's syndrome
50
to treat Turner's syndrome
growth hormone estrogen
51
47 XXY psych issues (fire setting behavior) tall and slim w/ small testes gynecomastia
Klinefelter's syndrome
52
tall and slim
Klinefelter's syndrome
53
due to primary testicular failure high LH/FSH and low testosterone
Klinefelter syndrome
54
long-term follow up increased risk for breast cancer
Klinefelter syndrome
55
16 yr old girl w/out period short diagnosis? LH/FSH levels?
Turner's high FSH/LH low estradiol
56
Klinefelter syndrome high LH/FSH low testosterone
57
aldosterone low renin high
58
Leuprolide (GnRH agonist then antagonist)

ENR Biweekly 3 (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions