REI Flashcards
congenital adrenal hyperplasia
most common cause of ambiguous genitalia
46XX, clitoral enlargement, labial fusion, urogenital sinus
AR inheritance
>95% is ude to 21 hydroxylase deficiency–obstructs cortisol production–no negative feedback to switch off ACTH; building blocks are diverted to androgen production
very high levels of 17 hydroxy-progesterone
can cause shock in newborns given lack of cortisol and may cause salt wasting shock
2 main events of puberty
gonadarche: activation of ovaries by FSH and LH
adrenarche: increased androgen production by adrenal cortex
thelarch: development of breasts
pubarche: the development of pubic hair
adrenarche: onset of androgen dependent body changes (axillary and pubic hair growth, body odor and acne)
GRaB PAM
growth spurt (GR)
Breast
Pubarche
Adrenarche
Menarche Tanner IV or 2-3years after breast budding
when to evaluate if amenorrhea
no menses within 3 years of thelarche
no secondary sexual characteristics by age 13
age 14 with history or exam suggestive of eating disorder
age 14 with hirsutism
age 15 regardless of development
>90 days without menses in a menstruating adolescent
work up of hirsuitism
total testosterone (r/o abnormal ovarian or adrenal function)
DHEAS (rule out abnormal adrenal function; most adrenal tumors secrete excess testosterone)
17 OH progesterone (to rule out CAH)
management of hirsuitism
OCPs: decreases androgen production and increases SHBG
spironolaction: blocks androgen receptor and inhibits 5a reductase
finasteride: 5a reductase inhibibitor; inhibits testosterone–>DHT
flutamide: blocks androgen receptor
cosmetic hair removal
weight loss
primary amenorrhea
no menses 13 in absence of secondary sexual characteristics
no menses 15 with secondary sexual characteristics–w or w/o cyclic pelvic pain (r/o possible outflow tract obstruction)
causes: divide into presence or absence of breast development (estrogen action/ovarian function); presence or absence of uterus; FSH level
UTERUS PRESENT
Breasts present=estrogen present (evaluate as 2ndary amenorrhea); hypothalamic causes; pituitary causes (25% prolactinoma); ovarian causes; uterine causes/outflow tract abnormalities
Breasts absent=absent estrogen; gonadal failure 50% hypergonadotropic hypogonadism; 45X, 46X, Mosaicism; pure XX or XY gonadal dysgenesis; 17a hydroxylase deficiency
CNS-hypothal-pituitary-hypogonadotropic hypogonadism–CNS lesion (pituitary adenomas, craniopharyngiomas); hypothal failure seconedary to inadequate GnRH Kallman’s; isolated gonadotropin deficiency; constitutional delay
UTERUS ABSENT
breast present: uterovaginal agenesis (Rokitansky-Kuster-Hauser Syndrome); normal pubic hair; androgen insensitivity–remove internal gonads after puberty; Y chromosome increases risk of gonadal tumors, shortened or absent vagina, sparse pubic hair
absent breast (rare): XY, elevated gonadotrophins, testosterone normal or less for females; 17, 20 desmolase deficiency, agonadism; 17a hydrozylase def with 46XY
initial evaluation based on FSH results and the presence or absence of breasts and uterus
work up: hCG, FSH, TSH, PRL (consider E2, FT4), pelvic US
secondary amenorrhea
no menses > 3 months in female with normal cycles or 6 months if irregular cycles
Pregnancy
PCOS
thyroid dysfunction
hyperprolactinemia
CAH
medicationspremature ovarian insufficiency (autoimmune/Fragile X)
adrogen secreting tumors
ACTH/GH secreting tumors
evaluation of amenorrhea
exclude pregnancy
history: assess for stress, nutritional factors, weight change, medications and symptoms of hypo-estrogen
if galactorrhea present–TSH/PRL
physical exam: are mullerian structures present? if vagina is short and blind: mullerian agenesis (MRS); androgen insensitivity (get total testosterone karyotype); vaginal agenesis/atresia or transverse vaginal septum; cervical atresia
if vagina normal and cervix present: TSH/PRL, FSH and estradiol; progesterone withdrawal challenge–if pos bleed, then anovulation is problem; if no bleed do estrogen and progesterone challenge; if bleed then not enough estrogen; if neg bleed then abnormal outflow tract
FSH: normal 5-30; >30 ovarian failure; <5 hypothal/pit
LH: 2-20, >20, <5
low estradiol <50mg/ml
primary ovarian insufficiency
need two random tests at least one month apart
elevated FSH/LH, low E2, neg pregnancy test and PRL TSH
if age <30 obtain karyotype; 50% 45XO; 25% gonadal dysgenesis/agenesis; 25% mosaics
gonadectomy required due to increased cancer risk with Y chromosome; after puberty; gonadoblastoma, dysgerminoma, choriocarcinoma
age >30; SLE, MG, thyroid, theumatoid, fragile X, absent FSH/LH receptors, perimenopausal
do karyotype, FMR1-premutation, adrenal antibodies, pelvic US, check TSH and TPO q1-2years; 20% will develop hashimotos
treat: .1mg/d transdermal estradiol plus cyclic progesterone–goal is to preserve bone, CV and sexual helath
