Kauflers- Genetic Disorders of Endocrine System Flashcards
precocious puberty in 5 year old girl (breast buds); LH and FSH high; everything else WNL
idiopathic central precocious puberty
how to suppress LH/FSH from the pituitary
Leuprolide (in depot form)
GnRH agonist in the short term; antagonists long term
Leuprolide
LH/FSH low means what
pituitary not functioning
8 yr old boy w/ larger private parts; LH/FSH low; testosterone high (beta-hcg high)
hCG tumor
what tells the Leydig cells to make testosterone
hCG
what cells are the ones who actually tell the testes to enlarge
sertoli cells
how to treat hCG tumor
remove it
An hcg tumor in girls would only stimulate the ____ cells of the ovary, not the _____ cells
stimulate the theca cells; not the granulosa cells (need both to make estrogen)
would a girl with hCG tumor get precocious puberty
no (only the theca cells are stimulated)
baby born with empty scrotum; 46XY; normal size penis and scrotum but no palpable testes; what to do?
give shots of hcg (will stimulate Leydig cells to make testosterone—helps testes descend into scrotum)
Boy with precocious puberty: big testicles, big penis, etc
Also has “laughing seizures”, also called gelastic seizures
Hypothalamic hamartoma
congential malformation, it acts an as ectopic GnRH pulse generator, which stimulates the pituitary gland
hypothalamic hamartoma
how to treat hypothalamic hamartoma
Leuprolide
hypothalamic hamartoma
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
constitutional delay of growth (late bloomer)
how to jump-start puberty
give progesterone for 14 days and then after that should have withdrawal bleed
14 yr old male with small penis and short stature
delayed puberty
<4 mL of testes means what
hasn’t started puberty
at least some testicular enlargement and pubic hair reassures you of what
HPG axis in tact
how to jump-start puberty in boys
IM testosterone (low-dose)
what happens when testosterone shots are given; and what happens when shots are stopped
testes will enlarge; penis will enlarge and growth spurt after shots are stopped
low aldosterone and cortisol; elevated androgens
21-alpha-hydroxylase deficiency (CAH)
low aldosterone and cortisol; elevated androgens AND high bp
11-beta-hydroxylase deficiency (CAH)
Complete loss of the ability to make aldosterone or cortisol; makes too many androgens
21-alpha-hydroxylase deficiency
baby is a “salt-waster”
17-hydroxylase very high on newborn screen
21-alpha-hydroxylase deficiency (CAH)
virilization of female infant
21-alpha-hydroxylase deficiency
congenital adrenal hyperplasia
congenital adrenal hyperplasia
high blood pressure (due to DOC buildup) and NO salt wasting; virilization of baby girl
11-beta-hydroxylase deficiency
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
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
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
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
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
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
how to halt puberty
Leuprolide
taking _____ is EXTREMELY contraindicated with his other risk factors for blood clots, such as smoking
estrogen
low AFP
low estriol
high hCG
high inhibin
Down’s syndrome
short stature, high incidence of autoimmune thyroid disease
endocrine problems
pt with type I diabetes that is now tired all the time
hypothyroidism
Isolated GnRH deficiency in the hypothalamus
Kallman’s syndrome
Low LH, low FSH, but other pit hormones WNL
Kallman’s syndrome
small testes; undescended testes; NO sense of smell
Kallman’s syndrome
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
45 XO
webbed neck; broad chest
short stature always
Turner’s syndrome
Turner’s syndrome
due to ovarian failure; high LH/FSH and low estradiol
Turner’s syndrome
often see short stature and webbed neck; coarctation of aorta
Turner’s syndrome
to treat Turner’s syndrome
growth hormone
estrogen
47 XXY
psych issues (fire setting behavior)
tall and slim w/ small testes
gynecomastia
Klinefelter’s syndrome
tall and slim
Klinefelter’s syndrome
due to primary testicular failure
high LH/FSH and low testosterone
Klinefelter syndrome
long-term follow up increased risk for breast cancer
Klinefelter syndrome
16 yr old girl w/out period
short
diagnosis?
LH/FSH levels?
Turner’s
high FSH/LH
low estradiol
Klinefelter syndrome
high LH/FSH
low testosterone
aldosterone low
renin high
Leuprolide (GnRH agonist then antagonist)
