Pubertal Variation Flashcards
when should thelarche onset?
after age 7
when should menarche onset?
after age 10 but before age 15
when is it delayed puberty with secondary sex characteristics?
if none by age 13
what is genetic change in mccune albright syndrome?
somatic mutation in G3 protein of GNAS gene
what does the mutation in mccune albright syndrome lead to?
autonomous endocrine gland function
what are the three classic findings for mccune albright syndrome?
polyostotic fibrous dysplasia
cafe au lait
hyperfunctioning endocrine syndrome
what are the common endocrine disorders with mccune albright syndrome?
precocious puberty testicular abnormality hyperthyroid GH excess cushings
what is precocious puberty?
mainly in females with mccune albright syndrome…they get episodic breast dvlpmnt growth accel and vginal bleeding early
what causes precocious puberty in mccune albright syndrome?
estrogen producing cysts
what is seen in testis of boys with mccune albright syndrome?
macro orchidism
what is rx for estrogen increase in mccune albright syndrome?
aromatase inhibitors
name the aromatase inhibitors used in girls with mccune albright syndrome?
letrozole and anastrozole
what are physical findings of turner syndrome?
webbed neck shield chest wide nipples cubitus valgus prepubertal vagina cervix and uterus
are FSH/LH normal low or high in turners?
high
is estrogen normal low or high in turners?
low
why is estrogen low in turners?
because ovaries are not functioning properly
what are associated abnormalities of Turners?
renal
CV
autoimmune
what is most common autoimmune issue in turners?
hashimotos
what are the CV issues in turners?
MVP
bicuspid aortic valve
coarctation of aorta
what two hormones to give in turner syndrome/
GH replacement and estrogen/progestin
what is karyotype of turners?
45X
what is CAIS?
complete androgen insensitivity syndrome
what happens in complete androgen insensitivity syndrome ?
testes make testosterone and AMH during development then get inactivating mutation in androgen receptor resulting in end organ insensitivity to androgens
what happens to puberty in complete androgen insensitivity syndrome ?
it is delayed
will you have uterus or upper vagina in complete androgen insensitivity syndrome ?
no
what does the insensitivity to androgens cause in external genitalia in complete androgen insensitivity syndrome ?
prevents masculinization of internal and external genitalia during development and no male pattern hair growth in pubic area
what happens to excess androgens in complete androgen insensitivity syndrome ?
since body parts are insensitive they can be aromatized in some tissues to estrogen and you can get breast development and female body contour
what is Rx for complete androgen insensitivity syndrome ?
remove testes and estrogen replace
what is MRKH?
mullerian agenesis
what happens in mullerian agenesis?
you get normal ovaries and fallopian tubes but no uterus or cervix
what other abnormalities can occur with mullerian agenesis?
renal cardiac and spinal (MURCS)
what is inheritance of mullerian agensis?
usually sporadic
what is appearance of female in mullerian agenesis?
normal appearing female with vagina and ovaries but no menses (late menarche) and no uterus or cervix
what is inheritance of complete androgen insensitivity syndrome ?
X linked recessive
if you have late for puberty and have low FSH/LH what are you thinking the location of issue is?
hypothal-pituitary axis
name the hypothal/pit syndrome with later puberty?
Kallman syndrome
what hormone is usually the cause of Kallman syndrome?
GnRH deficiency
what is main finding in kallman syndrome?
delayed puberty (primary amenorrhea)
who can get kallman syndrome?
males and females
what should you give females with kallmans?
estrogen replacement, FSH
what should you give males with kallman syndrome?
testosterone, hCG and FSH
what is 5a recuctase deficiency?
when you are missing this enzyme you get buildup of testosterone and low levels of DHT
what is DHT in charge of in development?
external genitalia
if you do have DHT then what happens to external genitalia?
phallus enlargement, body hair increase, acne
with 5a reductase deficiency what happens to external genitalia at birth?
female external genitalia
with 5a reductase deficiency what happens to internal genitalia at birth?
they are male because has testosterone and presence of anti mullerian hormone
since you can degrade testosterone into DHT, what will happen due to increased testosterone in puberty?
increase muscle mass, libido, deepening of voice and lengthening of the clitoris
what is inheritance of 5a reductase deficiency?
AR
what is karyotype of 5a reductase deficiency?
46XY
what is common presentation of 5a reductase deficiency?
male body habitus with external female genitalia with short vagina and no cervix/uterus
what hormone is super high in 5a reductase deficiency?
testosterone
what ratio is high in 5a reductase deficiency?
testosterone to DHT
