REI Flashcards
CAH
most common cause of ambiguous genitalia
females: clitoral enlargement, labial fusion, urogenital sinus
AR
>95% is due to 21 hydroxylase deficiency, Enzyme block up, increased androgens and decrease cortisol and aldosterone. Can causes salt wasting
dx: very high levels of 17 hydroxy progesterone
presents like PCOS
Primary amenorrhea
Uterus present
No breasts
no estrogen
GET FSH
A) Gonadal failure hypergonadotropic hypogonadism
-40% of cases
-get karyotype
-gonadal dysgenesis (turner syndrome, 45X; Pure gonadal dysgenesis, 46 XX; Swyer syndrome 46 XY
-infection (mumps)
-gonadal injury (chemo)
-17 hydroxylase deficiency
-autoimmune
B) CNS hypothal-pituitary
hypogonadotropic hypogonadism
- CNS lesions (pituitary adenomas, cranipharygioma)
-hypothal failure secondary to inadequate GnRH (Kalman (anosmia))
-isolated gonadotropin deficiency
-constitutional delay (exercise, stress, poor nutrition, anorexia)
PCOS- meds that manage hirsutism for PCOS and MOA
1) COCs- suppresses LH and FSH, decreased free testosterone by stimulating sex hormone binding globulin production
2) Spironolactone- competes with DHT by binding to androgen receptor (blocker) and inhibits enzymes involved in androgen production. Inhibits 5 alpha reductase
3) Finasteride: inhibits conversion of tesosterone to DHT via 5 alpha reductase
4) Flutamide- nonsteroidal androgen receptor antagonist, not rec due to hepatotoxicity
5) eflornithine- topical facial cream inhibits enzyme ornithine decarboxylase to treat hair thats already present
6) Hair removal, laser therapy, electrolysis
diagnosis of PCOS
rotterdam criteria. Need 2/3
1) oligo or anovulation
Rule out other causes of oligomenorrhea- FSH/LH, TSH, prolactin
2) hyperandorgenism (clinical or biochemical) labs- testosterone and free testosterone
(Rule out adrenal tumor with dheas) rule out CAH with 17OHP
3) PCOS (ultrasound)
>12 follicles in either ovary, 2-9 mm in diameter
and or increased ovarian volume >10 mL
finding required in only one ovary to fulfill criteria
workup for secondary amenorrhea
bHCG (pregnancy)
-thyroid disease (TSH)
-hyperprolactin (lactation, prolactinoma, meds)
-PCOS
-CAH (17 OHP)
-stress or exercise
-weight loss/anorexia
-meds (psychotropics)
-premature ovarian insufficiency (FSH/LH)
-androgen secreting tumors
-ACTH/GH secreting tumors
-ashermans syndrome
-other hypothalamic lesions(cranipharyngioma)
infertility eval (female factor)
-Diminished ovarian reserve: AMH (<1 ), D2-d5 FSH >10, E2 >60-80, antral follicle count <5-7)
-ovulatory dysfunction: oligo or amenorrhea, progesterone levels repeatedly <3 (usually done on D21)
-tubal factor: hysterosalpingogram to assess for tubal patency
-uterine factor: TVUS, HSG, hysteroscopy, to assess for polyps, synechiae, mullerian anomalies, submucosal myomas
-Get TSH, blood glucose, and prolactin
-APLS testing if more than 3 first trimester consecutive
-could consider karyotype: look for balanced translocation or mosaic turners
infertility male factor
semen analysis
most and least favorable uterine anomaly for live birth and what are risks
didelphys > bicornuate
Least: separate uterus
PTD/malpresentation/CD/miscarriage/abnormal placentation
Primary amenorrhea
Uterus absent
+/-breasts
A) + BREASTS
-uterovaginal agensis (rokitansky kuster hauser syndrome), normal pubic hair
-androgen insensitivity (female testicularization, XY). will have high testosterone. scant pubic hair, short or absent vagina. remove internal gonads after puberty, increased risk for gonadal tumors
B) NO BREASTS (RARE)
XY, elevated gonadotropins, testosterones normal or less for females
-17,20 desmolase def
-agonadism
-17 hydroxylase deficiency with 46 XY
how to diagnose POI
two random tests at least one month apart
ELEVATED FSH/LH(>30-40) and E2 <50, neg preg test, nl prolactin, nl TSH
-if age <30, get karyotype (rule out turner)
-if age >30– POI
Consider FMRI permutation
clomiphene
weakly estrogenic, classified as anti-estrogen
competes for estrogen binding receptors with minimal stimulation
partial estrogen agonist in hypothalamus, increases GnRH, FSH and LH
50 mg x5d starting d5 of cycle (then 100 mg then 150 mg is max). Sex 5 days after last tablet every day or every other day for 5-7 days. Ovulation occurs 5-10 days after last tablet
SE: vasomotor sx, HA, dizzy, eye pain/blurred vision
Decreased cervical mucus, thin endometrium, pelvic discomfort
letrozole
aromatase inhibitor
-blocks synthesis of estrogen which reduces feedback at pituitary
-2.5 mg/day for 5d starting day 3 of cycle (increase at 2.5 mg increments to 7.5 mg)
Higher live birth rate, decrease multiple gestation, not anti estrogenic on endometrium
Side effects- hot flushes, fatigue, dizziness
Not FDA approved
If you ovulate, stay at that dose. Refer to rei if nothing happening after 4th cycle. If you don’t ovulate after one cycle, increase the dose
Gonadotropin drugs
provided as FSH or FSH+LH
acts on FSH receptors to stimulate follicular growth
Turner syndrome
inheritance
physical characteristics
gyn implications
45X
May be due to total absence of X chromosome or mosaicism (46XX/45XY)
-web neck, short stature, narrow carrying ange, breast plate chest
-cystic hygroma, cardiac anomalies, polycystic kidneys, hypothyroidism
-due to gonadal dysgenesis, hypoestrogenic state, no pubertal breast or menarchal development
-usually infertile
-at risk for osteoporosis: supplement with HRT and Ca
what is the risk of having a pregnancy with down syndrome vs delivering an infant with down syndrome at 35
pregnancy with down syndrome is 1:250
delivering with down syndrome is 1:350
