Term
| define primary amenorrhea |
|
Definition
| no menarche or secondary sex characteristics by 13yo |
|
|
Term
| define secondary amenorrhea |
|
Definition
| no period for 3 cycles or 6mo |
|
|
Term
| define primary ovarian insufficiency - 2 |
|
Definition
| <40yo, or amrnorrhea for >3mo with FSH >30 on 2 separate occasions |
|
|
Term
| who needs and eval for primary amenorrhea - 3 |
|
Definition
| no menarche by 15yo, no menarche within 3y of thelarche, no thelarche by 13yo |
|
|
Term
| what is the work up everyone gets for primary amenorrhea - 7 |
|
Definition
| hCG, ovarian function (FSH, LH, E2, AMH), TSH, PRL |
|
|
Term
| what are labs you can consider if elegiable for primary amenorrhea - 6 |
|
Definition
| androgen (DHEA, T, 17OHP) if acne or hirsturism, TVUS/CT if mass or pain, karyotype if missing mullerian structures, MRI if hyperPRL or galactorrhea |
|
|
Term
| what do leydig cells make |
|
Definition
|
|
Term
| what do sertoli cells make |
|
Definition
| androgen binding protein - concentrates testosterone |
|
|
Term
| what are the mesonepheric ducts also called |
|
Definition
|
|
Term
| what are the paramesonepheric ducts also called |
|
Definition
|
|
Term
| what do the mesonepheric ducts make in a male what is needed for thes |
|
Definition
| testosterone from the leydig cells - epididymis, vas deferens, seminal vesicle - MEWS-V |
|
|
Term
| what do the mesonepheric ducts make in a female, what is needed for this |
|
Definition
| lack of testosterone - eoophoron, skenes, gardner ducts - MEWS-G |
|
|
Term
| what causes the sertoli and leydig cells to secrete testosterone and testosterone binding protein |
|
Definition
|
|
Term
| what is needed for male external genitalia to form |
|
Definition
| SRY gene tells leydig cells to make T, which is converted by 5a-reductase to DHT which makes the external genitalia, they also need T to turn the wolfian ducts into all the tubes, they also need AMH/MIS to stop the uterus and vagina from forming |
|
|
Term
| what does the paramesonepheric ducts make in females, what is needed for this |
|
Definition
| upper 2/3 of vagina, uterus - needs WNT, HOX - UMP-V |
|
|
Term
| what does the paramesonepheric ducts make in males, what is needed for this |
|
Definition
| needs AMH/MIS - vagina masculinia, appendix testies - VAMP |
|
|
Term
| hyper/hypo - 2 categories |
|
Definition
| normal and abnormal karyotype (FAST) |
|
|
Term
| hyper/hypo abnormal karyotype - 3 |
|
Definition
| turner, swyer, fragile X (FAST) |
|
|
Term
| hyper/hypo normal karyotype - 6 |
|
Definition
| kallman, radiation, chemo, ovarian surgery, autoimmune polyglandular syndrome, autoantibodies (FAST) |
|
|
Term
| what autoantibodies can cause hyper/hypo - 3 |
|
Definition
| adrenal, parathyroid, thyroid peroxidase |
|
|
Term
|
Definition
| pituitary, constitutional delay, functional hypothalamic amenorrhea, eating disorders (PET-CT) |
|
|
Term
| causes eugonadal hypogonadism - 7 |
|
Definition
| structural, congenital adrenal hyperplasia, XX female pseudohermaphodite, 5a-reductase deficiency, androgen insensitivity syndrome, MRKH, PCOS - UTERUS CRAMPS X |
|
|
Term
| 5 types of congenital adrenal hyperplasia |
|
Definition
| 21-hydroxylase, 11B-hydroxylase, 3B-hydroxysteroid, 17A-hydroxylase, 17B-hydroxysteroid |
|
|
Term
| 4 structural issues that can cause eugonadal hypogonadism |
|
Definition
| ashermans, imperforate hymen, transverse vaginal septum, cervical stenosis |
|
|
Term
| turner syndrome is what % of conceptions |
|
Definition
|
|
Term
| 1:___ turner babies survive |
|
Definition
|
|
Term
| turners is what % of SABs |
|
Definition
|
|
Term
| % of turners that are mosaic |
|
Definition
|
|
Term
| turner mosaic that is shortest |
|
Definition
|
|
Term
| turner mosaic that is most likley to have menses |
|
Definition
|
|
Term
| turner mosaic that is second most likley to have menses |
|
Definition
|
|
Term
| most common turner mosaic |
|
Definition
|
|
Term
| turner mosaic most likley to have hashimotos |
|
Definition
|
|
Term
| turner mosaic that never has any puberty |
|
Definition
|
|
Term
| turner mosaic that can have SRY gene defect too |
|
Definition
|
|
Term
| turner mosaic that needs a gonadectomy |
|
Definition
|
|
Term
|
Definition
|
|
Term
| where does the X in turners come from |
|
Definition
| 75% maternal, exception 45X/46Xi(Xq) 50% of i(Xq) is from dad |
|
|
Term
| why is there no Y in turners |
|
Definition
|
|
Term
| where does a karyotype come from to diagnose turners |
|
Definition
| venous WBC, can come from anywhere but you could get a different result depending on the tissue |
|
|
Term
| evaluation in turners - 7 |
|
Definition
| ECHO, renal US, TSH, CBC, lipids, celiac, hearing |
|
|
Term
| physical exam signs turners - 8 |
|
Definition
| no breast, short, webbed neck, sheild chest, wide nipples, small mandible, pigment nevi, high palate |
|
|
Term
|
Definition
|
|
Term
| % of turners that will have zero puberty |
|
Definition
|
|
Term
| % of turners that are fertile |
|
Definition
|
|
Term
| cardiac abnormalitie spossible in turners - 4 |
|
Definition
| bicuspid aorta 30%, coarctation of the aorta 10%, dilated aortic root, HTN |
|
|
Term
| metabolic abnormalities turners - 2 |
|
Definition
| DM, hypothyroid/hashimotos |
|
|
Term
| GU abnormalities turners - 3 |
|
Definition
| horseshoe kidney 30% vs double/cleft renal pelvis, steak ovaries |
|
|
Term
| screening needed for turners patients |
|
Definition
annual - BP, hearing, LFT, TSH, lipids, FBG
celiac - q2-5y |
|
|
Term
| pregnancy options for turners what is the risk |
|
Definition
| donor egg IVF (100x chance of death 2% mortality, higher if aortic root dilation or bicuspid aorta) |
|
|
Term
| hormonal management in turners - 3 |
|
Definition
| GH if <5%ile (uually 2-5yo), E2 at 12-14yo start 0.5mg and start increasing in 3-6mo until 2mg, PROG add after 1st bleed or 2y post E2 |
|
|
Term
|
Definition
| 46XY with deletion mutation 15%, deletion 15%, something else 70% of SRY gene |
|
|
Term
| signs of swyer syndrome - 9 |
|
Definition
| NEFG, no breast, no puberty, streak gonads, uterus, cervix, tubes present, upper 2/3 vagina present, primary amenorrhea |
|
|
Term
| when does swyer get a gonadaectomy |
|
Definition
|
|
Term
| risk of goand maligiancy in swyer |
|
Definition
|
|
Term
| hormonal mangement in swyer |
|
Definition
| E2 at 12-14yo start 0.5mg and start increasing in 3-6mo until 2mg, PROG add after 1st bleed or 2y post E2, stop at 50yo |
|
|
Term
| infertility management in swyer |
|
Definition
|
|
Term
| after radioactive iodine how long do you have to wait for pregnancy |
|
Definition
|
|
Term
| fragile X is what % of POF |
|
Definition
|
|
Term
|
Definition
| CGG repeat on FMR gene, causes diases when >200 |
|
|
Term
| signs of fragile X in women |
|
Definition
| POF 20% (can intermittently ovulate and become pregnant in 10%), normal development prior |
|
|
Term
| cause of kallman syndrome |
|
Definition
| neuron defect so no GNRH is made thus no FSH/LH are made |
|
|
Term
| signs of kallman syndrome |
|
Definition
| primary amenorrhea, no secondary sex characteristics, HAS BODY HAIR |
|
|
Term
| hormonal management in kallman |
|
Definition
| E2 at 12-14yo start 0.5mg and start increasing in 3-6mo until 2mg, PROG add after 1st bleed or 2y post E2, stop at 50yo |
|
|
Term
| infertility management in kallman |
|
Definition
| donor egg, menotropins (FSH and LH, LH reduces the need for extremem amounts of FSH in this syndrome which could cause cycle cancellation and OHSS) |
|
|
Term
| chemo with high risk of ovarian failure - 6 |
|
Definition
| cyclophosphamide, chlorambucil, melphalan, busulphalan, nitrogen mustard, procarbazine |
|
|
Term
| chemo with moderate risk of ovarian failure - 2 |
|
Definition
|
|
Term
| chemo with low risk of ovarian failure - 6 |
|
Definition
| bleomycin, actinomycin, vincristine, MTX, 5FU, taxanes |
|
|
Term
| cause of autoimmune polyglandular syndrome |
|
Definition
| mutation on chromosome 21 |
|
|
Term
| signs of autoimmune polyglandular syndrome type 1 - 3 |
|
Definition
| childhood onset, hypoparathyroidism 90%, adrenal insufficiency 70%, POF 60% |
|
|
Term
| signs of autoimmune polyglandular syndrome type 2 - 5 |
|
Definition
| childhood onset, adrenal insufficiency 100%, hypothyroid 70%, DM1 50%, POF 10% |
|
|
Term
| diagnosis of autoimmune polyglandular syndrtome - 5 |
|
Definition
| antiadrenal Ab, anti 21hydroxylase Ab, anti TPO Ab, anti thyroid peroxidase, anti ovarian ab (ovarian is not reliable) |
|
|
Term
| signs of constitutional delay |
|
Definition
| normal birth weight, lag at 3-6mo and at puberty lasting 2-3y, normal adult height |
|
|
Term
| body fat % causing amenorrhea in functional hypothalamic amenorrhea |
|
Definition
| <17% for menrache, <22% for a period |
|
|
Term
| cause of functional hypothalamic amenorrhea |
|
Definition
| alters GNRH pulses which cause disorderd LH |
|
|
Term
| labs elevatetd in functional hypothalamic amenorrhea - 3 |
|
Definition
| gherlin, cortisol, endorphins |
|
|
Term
| labs low in functional hypothalamic amenorrhea - 6 |
|
Definition
| GNRH, FSH, LH, E2, leptin, insulin |
|
|
Term
| risks for functional hypothalamic amenorrhea - 3 |
|
Definition
| illness, menstruation, exercise |
|
|
Term
| functional hypothalamic amenorrhea before menarche usually delays menarche how long |
|
Definition
|
|
Term
| functional hypothalamic amenorrhea signs - 5 |
|
Definition
| AUB, amenorrhea, fatigue, depression, fracture/osteoporosis |
|
|
Term
| functional hypothalamic amenorrhea during peak growth time means they only achieve what % of their BMD |
|
Definition
|
|
Term
| functional hypothalamic amenorrhea #1 treatment |
|
Definition
| increased weight (also decrease crazy exercising) |
|
|
Term
| functional hypothalamic amenorrhea treatment |
|
Definition
| increase weight, decrease activity, OCPs to stop further bone loss |
|
|
Term
| functional hypothalamic amenorrhea why aernt bisphosphonates used |
|
Definition
| they dont work, also they can get into the fat and leak out in pregnancy |
|
|
Term
| functional hypothalamic amenorrhea prognosis for recovery |
|
Definition
|
|
Term
| causes of sheenhan syndrome |
|
Definition
| pituitary infarct during pregnancy |
|
|
Term
| sheenhan syndrome risks - 2 |
|
Definition
| hypotension requiring transfusion, PPH |
|
|
Term
| sheenhan syndrome signs - 6 |
|
Definition
| secondary amenorrhea, lethargy, anorexia, weight loss, poor milk production, adrenal insufficiency or crisis |
|
|
Term
| sheenhan syndrome diagnosis - imaging |
|
Definition
|
|
Term
| sheenhan syndrome diagnosis - labs - 5 |
|
Definition
| low GH, PRL, ACTH, TSH, cortisol |
|
|
Term
| sheenhan syndrome treatment - 2 |
|
Definition
| steroids to prevent adrenal crisis, levothyroxine IF still abnormal after correcting for adrenal abnormalities most compensate for TSH on their own |
|
|
Term
| cause of imperforate hymen |
|
Definition
| no rupture of posterior wall of urogenital sinus as neonate |
|
|
Term
| signs imperforate hymen - 3 |
|
Definition
| cyclic pain, thin blueish membrane, acute urinary retention (Rare) |
|
|
Term
| cause of transvserse vaginal septum |
|
Definition
| incomplete urogenital sinus fusion |
|
|
Term
|
Definition
| no blueish membrane but same as imperforate hymen, associated with severe endometriosis |
|
|
Term
| sheenhan syndrome management |
|
Definition
| never drain leads to infection, must resect |
|
|
Term
|
Definition
MRKH - defect in WNT
AIS - no androgen receptors |
|
|
Term
|
Definition
|
|
Term
| MRKH vs AIS - inheritence |
|
Definition
MRKH - unknown
AIS - x-linked recessive |
|
|
Term
| MRKH vs AIS - uterus and vagina |
|
Definition
MRKH - present
AIS - abnormal or absent, blind pouch |
|
|
Term
| MRKH vs AIS - renal anomalies |
|
Definition
MRKH - horseshoe kidney 50%
AIS - none |
|
|
Term
| MRKH vs AIS - skeletal anomalies |
|
Definition
|
|
Term
| MRKH vs AIS - testosterone level |
|
Definition
MRKH - female
AIS - higher than female, less than male |
|
|
Term
|
Definition
MRKH - normal ovaries
AIS - functional testies in abdomen, inguinal canal, or labia |
|
|
Term
| MRKH vs AIS - fertility management |
|
Definition
MRKH - egg retrevial and surrogate
AIS - adoption |
|
|
Term
| MRKH vs AIS - when do to gonadectomy |
|
Definition
MRKH - dont!
AIS - after puberty |
|
|
Term
|
Definition
|
|
Term
| 2 methods of vaginal dilation |
|
Definition
frank - patient applied
ingram - fitted bike seat |
|
|
Term
| what is a vachetti procedure |
|
Definition
| surgery with spring loaded traction on the vaginal cuff to elongate a vagina |
|
|
Term
| MRKH vs AIS - secondary sex characteristics |
|
Definition
MRKH - normal female
AIS - female with less pubic/axilly hair and large breasts |
|
|
Term
| incidence of incomplete AIS |
|
Definition
|
|
Term
|
Definition
1 - normal male phenotype with gynecomastic and infertility
2- add small penis, and hypospadius
3- add cryotoorchidism and bifid scrotum
4- ambiguous genitalia, large clitoris
5- female phenotype, separate urethra and vagina
6- add pubic and axillar hair, 50% inguinal hernia
7- CAIS |
|
|
Term
| 4 causes of XX female pseudohermaopoidism |
|
Definition
1 - division of one ovum, separate fertilization, then fusion,
2 - 1 ovum, 2 sperm
3 - 2 ovum, 2 sperm
4 - SRY mutation |
|
|
Term
| signs of XX female pseudohermaphoridism |
|
Definition
| ootesties or 1 ovary 1 testie, external gentialia respond to testosterone at 8-16wk, normal uterus and tubes |
|
|
Term
| how is XX female pseudohermaphoridism raised |
|
Definition
|
|
Term
| infertility management for XX female pseudohermaphoridism |
|
Definition
| fertility is possible just need to get an egg and sperm in there |
|
|
Term
| cause of 5a-reductase deficiency |
|
Definition
| AR XY with wolfian ducts but pseudofemale genitalia, no DHT means no male external genitalia |
|
|
Term
| signs of 5a-reductae deficiency - 7 |
|
Definition
| hypospadius, separate vaginal and urethra, cryptoorchidism, no acne, no temporal baldness, little body hair, impaired sperm |
|
|
Term
| 5a-reductase deficiency management |
|
Definition
you get to pick...
1 ) gonadectomy now to avoid virilization (and cancer)
2) early correction of hypospadius and cryptoorchidism allowing for male rearing and fertility (risk of cancer of testies) |
|
|
Term
| 5a-reductase fertility management |
|
Definition
|
|
Term
| what are the signs of an AMH mutation |
|
Definition
| normal male with inguinal hernia with differentiated mullerian structures |
|
|
Term
| 6 causes of virilization of a female baby that may cause ambiguious genitalia but not necessiarly cause life time issues or primary amenorrhea |
|
Definition
| placental aromatase deficiency, ovarian leutoma, maternal steroids, maternal danazol, maternal progesterone, maternal androgen secreting tumor |
|
|
Term
| what builds up in a 3B hydroxysteroid deficiency and what can you test in the lab to confirm |
|
Definition
| cholesterol, pregniolone, 17hydroxypregnolone, DHEA, andrstenediol - but the labs you can get are increased pregnolone, DHEA, 17OHP and decreased testosterone |
|
|
Term
| signs of 3B hydroxysteroid deficiency in male and female |
|
Definition
46XY - hypospadius to female genitalia
46XX - ambiguous genitalia |
|
|
Term
| what builds up in 17B hydroxysteroid deficiency, what labs can you get to confirm |
|
Definition
| androsteindione - labs you can get are high androstendione, low testosterone and DHT |
|
|
Term
| signs of 17B hydroxysteroid deficiency |
|
Definition
| female genitalia in male with 46XY and testes |
|
|
Term
| management of 17B hydroxysteroid deficiency |
|
Definition
| if virilization give androgens at puberty |
|
|
Term
| what builds up in 11B hydroxylase deficiency and what can you actually test in the lab |
|
Definition
| progesterone, 11 deoxycortisol - in the ab yiy get elevated 11 deoxycortisol and DHEA, decreased renin |
|
|
Term
| signs of 11B hydroxylase deficiency |
|
Definition
| HTN, hypokalemia, alkalosis |
|
|
Term
| genitalia and symptoms in females with 11B hydroxylase deficiency |
|
Definition
| normal genitalia, hirsturism, AUB |
|
|
Term
| what builds up in 17a hydroxylase deficiency, what can you test for in the lab |
|
Definition
| pregniolone, progesterone - test in the lab for elevatetd ACTH low DHEA |
|
|
Term
| signs of 17a hydroxylase deficiency |
|
Definition
| HTN, hyponatremia, hypokalemia, hypervolemia, males with female genitalia and blind vagina |
|
|
Term
| treatment 17a hydroxylase deficiency |
|
Definition
| steroids, estrogen (males raised as female) |
|
|
Term
| physiology 17a hydroxylase deficiency |
|
Definition
| cant really make sex steroids, everything goes into ALD/cortisol, ALD causes hypervolemia (HTN, electrolyte imbalances) |
|
|
Term
| inheritence 17a hydroxylase deficiency |
|
Definition
|
|
Term
| what happens in congenital lipoid adrenal hypoplasia |
|
Definition
| defect in STAR causes issues with cholesterol transport and testoserone isnt made, males are feminized |
|
|
Term
| 3 areas of the adrenal gland and what do they make |
|
Definition
| glomerulosa - mineralcorticoid, fascualata - glucocorticoid, reticularis - sex steroids |
|
|
Term
| physiology of 11B hydroxylase deficiency |
|
Definition
| cant make ALD/cortisol, everything goes down the path and there is elevated DHEA instead |
|
|
Term
| physiology of 17B hydroxylase deficiency |
|
Definition
| cant make testosterone but can make everything else ok |
|
|
Term
| physiology of 3B hydroxysteroid deficiency |
|
Definition
| cant make estrogen or testosterone, but everything else is ok |
|
|
Term
| #1 cause of endocrine neonatal death |
|
Definition
|
|
Term
|
Definition
| 21 hydroxylase deficiency |
|
|
Term
| cause of 21 hydroxylase deficiency |
|
Definition
| AR CRYP21A2 deficiency on CH6 p21 |
|
|
Term
| labs you can get to confirm 21 hydroxylase deficiency - 4 |
|
Definition
elevated - 17OHP, DHEA
low - 11deox, cortisol |
|
|
Term
| forms of 21 hydroxylase deficiency and their prevalence |
|
Definition
classical - salt wasting 75%, simple virilizing2 25%
non classical |
|
|
Term
| physiology of 21 hydroxylase deficiency |
|
Definition
| cant make ALD/cortisol (to different extents depending on the varient), things get shunted to making sex hormones |
|
|
Term
| signs of salt wasting CAH |
|
Definition
| zero enzyme activity, low cortisol and aldosterone, circulatory collapse |
|
|
Term
| signs of simple virilizing CAH |
|
Definition
| 2% enzyme activity prevents circulatory collapse, ambiguious genitalia |
|
|
Term
| races with higher risk of non-classical CAH - 4 |
|
Definition
| hispanic, Jewish, Slavic, medeterranian |
|
|
Term
| signs of non-classic CAH - 4 |
|
Definition
| precocious puberty, early hirsturism, AUB/oligomenorrhea, normal genitalia |
|
|
Term
| how can you tell if someone has classic vs non classic CAH |
|
Definition
| test 17OHP in the AM - if >800 they have classic, if <200 their normal, if in the middle then give ACTH 250mg and in 1h test againi, if >1500 they have non-classic |
|
|
Term
| when is the best time of the month to test 17OHP |
|
Definition
|
|
