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Diagnosis 21 hydroxylase def
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Diagnosis 21 hydroxylase def
Infant with ambiguous genitalia,High 17 OHP >800
If 200-800 do ACTH stim test
HIGH K
LOW Na
Genetics of androgen insensitivity
X linked, 46XY
Characteristics of AI
Primary amenorrhea, sparse hair short blind vagina HIGH testosterone.
Take testes out-increase risk of gonadoblastoma
ON?
Kleinfelters Characteristics
Azoosermia/gynecomastia/tall stature/infertility
Elev FSH/LLH
XXY
translocation testes determining factor
CAH genetics
46 XX
autosomal recessive
How do you diagnose 21 hydroxylase deficiency?
17 OHP >800
if unsure do ACTH stim test - 17OHP>1000
Late onset will only have slightly elevated 17OHP >800 is diagnostic <200
no conversion of 17 OHP to 11 deoxycortisol
ON
11 Beta Hydroxylase Deficiency
Infant with ambiguous genitalia
3 Beta Hydroxysteroid Dehydrogenase deficiency
Effects male and female
Severely Ill
Mild virilization
very elevated DHEA
Con't convert 17OH
pregnenelone to 17OHP
high preg and low 17OHP
Aromatase Deficiency
female ambiguous genitalia
No breast, primary amenorrhea, hyper hypo, PCO
P450 oxide reductase deficiency
Mom virilizes during pregnancy
Name some risk factors for theca lutein cysts?Anthing with increase bhcg: molar, trophoblastic dx, multiple No virilization Can get very lrg 10-15 cmRisk of infant virilization in women with luteomaIf mom no virilization then babay won't get it 6-10cm 50%bilateralPresentation of Swyer DiseaseNormal hair, prim amenorrhea, delayed sexual maturation, normal ext and int genitalia 46XY phenotypically female streak gonads, normal vag, uterus and tubes remvoe testes raise as female give estrogen SRY gene on short arm of y chromosome5 alpha reductase deficiency46XY No test coversion to DHT DHT needed for external male genitalia Ext female and internal male genitalia Virilize at puberty Penis at 12 autosomal recessive ON17 B hydroxysteroid dehydrogenase deficiencyNo androstenedione to androgen Severely decreased virilization increased FSH17 alpha hydroxysteroid deficiencydecreased cortisol increase in all HTN retained sodium raised female no uterus blind end vagina infantile femaleSteroid acute regulatory protein deficiencyStAR is rate limting step or steroidgenesis Rarest and most severe form Decrease 17OHPComplete androgen InsensitivityX linked recessive 46XY receptor defect causes androgen insensitivity NO receptros for testosterone Normal breast, no hair, no uterus or cervix, short vag (different from MRKH which has hair) testes out after puberty +breastIncomplete Androgen InsensitivityMild virilization in females and under viriilized males have some receptors Testes out before puberty to prevent virilization Male under virilized with oligospermia or azospermia begin masculinization at pubertyLeydig HypoplasiaNo hair, no breastm female at birth 46XY no mature leydig cells so no testosterone testes never descendKlinefelters syndrome47 XXY most common cause of ypoganadism in malesEstradiol, estrone and estriol are produced where?Estradiol-Ovary Estrone- adrenal and ovary Estriol placetnta precursor is 16 hydroxy dHEAS ONWhat test (not a lab) can you perform to assess ovarian reserveClomid challenge test ONWhat do you use to initiate LH surge?HcG ONBest time in cycle to do hsg?Day 7 line starting to proliferate pretty thin ONRisk of twins with Clomid? MOA of Clomid10% Binds to estrogen receptors and blocks them ONTreatment of luteal effectProgesteroneBest predictor of ovulationLH surge ONWhat size follicle indicates ovulation18-20mm ONDiagnosis of Ovulationday 21 progesterone want >10 ONPOF and family Hx MR?Fragile X CCG repeatsWhat's the best day to do post coital testDay 14 ONWhat re you at risk for with hsg?Oil embolism because of the use of thiadolHow do you differentiate bt bicornuate and septumlaparoscopyWhat's the first thing you should check in a pt with ambiguous genitaliaElectrolyteCushings and causesIncreased cortisoldexamethasone suppression test or 24 hr free cortisol in urine 1. less than 20-adren 2. 20-200 a pituitary 3. greater than 200 ectopic siteOnly mullerian anomalies assoc. w/ recurrent preg lossseptummost common genetic cause found in pts with recurrent lossbalanced translocationxx gonadal agenesis and neurosensory deafnessPerrault synHypo/hypo and anosmiaDefect in GnRH pathway (kallman syn)How do you treat precocious puberty? Define precocious pubertyLupron 7 caucasian 6 african americanmost likely cause of precocious pubertyidiopathic 80%What level do you look at before you trigger patient in order to prevent OHSS?Estradiol if >1500 then don't triggerDefine sever mod mild OHSSSec: ovary >12 cm, N/V, Ascited, >10lb weight gain Mod: ovaries 5-12cm, N/V > 5lbs wt gain Mild: ovaries <5cm, bloating, 5<5lb weight gainWhat % of women with uterine defects have successful pregnancies?57%Septate and arcuate are what type of developmental failureResorption failureNo time of embryo splittingDidi 0-3 Monodi 3-8 MonoMono 8-12 >12 conjoined ONThree most common congenital causes of amenorrhea?1. Turner 2. Mullerian 3. Androgen insensitivityHow do you tx CAH?start dexamethasone, Replace cortisol, mineral corticoids (check dosing by testing 17 OHP)No uterus cervix, blind vagina with normal hair and breast? When do you tx?MRKH when the patient wants to can have kids via surrogate When do you tx ONTurnersLimited sex characteristics, increased pigmented nevi short cardiac d/oLimited sex characteristics, 46 XX, no eggs/ovary function is what? and how do you txGonad agenesis Tx with progesterone/estrogen at pubertyFSH on day 3?<10describe hypogonadotropic hypogonadismlow FSH/LH some secondary sex characteristics, low estrogenName some GNRH agonists?Leuprolide, buserelin Initially is a stimulation os FSH/LH then 1-3 wks decrease in ovarian function. Long actingName one GnRH antagonistGanirelix, centrorelix they compete with gnrh receptors FSH/LH turned off immediately Give in IVF with Ig follicle to turn off LH NO FLARE, no receptor down regulationWhat is LetrozoleAromatase inhibitor has decrease SE Can use after ER+ breast CA Decrease androgen to estrogen conversion, increases FSH no competition with cervix/endometrial estrogen receptorsWhya would you give someone FSH/LH?Anovulation, follicular recruitment or IVF Male hypo/hypo to make spermWhat are some suspected causes of endometriosisRetrograde Menstruation lymphatic spread, coelomic metaplasia, direct spread, induction theory, embryonic rest cell, composite theoryDefine Infertility<35 1 yr >35 6 monthsHalf life of GnRH1 minOvarian reserver testingMost common day 2-4 FSH and estradiol best idea=antimulerian hormoneWhat are normal semen parameters1.5-5mL count 20 mil 50-60% motile 2/3 forward morph 50%ovalsWhat med should always d/c'd before hsg and why?Metformin can cause renal problemsCushings? Sign? Source? Screening?central obesity, HTN, hirsutism, hyperglycemia, striae Sources: ACTH dependant from pit tumor ACTH independent adrenal origin (virirlization and hirsutism worry about adrenal Ca) Screen overnight dexamethasone test or 24 free urine cortisol; <20 adrenal cause >200 ectopicHow are androgens increased in PCOSInsulin binds to IgF and decreases SHBG=increasd androgens also no FSH increase so don't get that transition bt granuloa and theca of andro __>estradiolProgesterone does what to LHInhibitsEstrogen does what to SHBGIncreasesHow does spirnolactone work?Inhibits ovarian and adrenal androgen production compete for androgen receptor on hair follices Inhibits 5 alpha reductaseWhat percent should the beta drop is just miscarriageby 21-35 if less worry about ectopicwhat are clinical criteria to diagnose APSPrior thrombotic event, 3+ losses < 10wks, fetal death, preterm delivery <34 wks assoc with severe pre-eWhen do you do MRI for increased prolactinif greater than 50 (speroff ) 100What is the McIndoe procedureMullerian agenesis creating neovaginaName the most effective means of contraceptiveIUD and VasectomyHow is glucose transportedcarrier mediated facilitated diffusionWhat would cause decrease in 17 ohp17 alpha Hyd. Def StAR def Partial gon DefHow do you tx infertility with nonclassical CAHDexamethasone first then clomid if neededWhat does inhibin do and where does it come fromfrom granulosa cells of ovary and it provide neg feedback and decreases FSHMother virilizes during pregnancy with no pelvic mass?P450Mom Virilizes during pregnancy and noted on u/s to have lrg b/l cystLuteomaPatient pregnant with didi twins and develops hirsutism?Theca lutein Assoc with high hcg (HIRSUTISM not virilize like luteoma)Patient coming in for primary amenorrhea has stage 3 pubic hair with normal breast blind vagina and no uterusMRKHIn Office being evaluated for primary amenorrhea has stage 3 hair development stage 1 breast development with normal vag, uterus and streak ovariesSwyersFemale with primary amenorrhea comes to the office at 13 y/o cause she is having tissue growing from the upper vagina ?5 alpha reductase can't convert testosterone to DHTFemale baby shortly after birth develops severe adrenal insufficiency and decreased 17ohp?StAR XYPresents with primary amenorrhea and on ultrasound no uterus ovaries noted in inguinal region stage 3 breast stage 1 hair developmentComplete androgen insensitivity X-LinkedMale has bifid scrotum and oligospermiaIncomplete AIPrimary amenorrhea, no breast, no hair development and chromosomal analysis comes back as XYLeydig cell hypoplasiaHow can you tell if a follicle is dominantTwo or more >18mm Estradiol >200 for each follicleAdolescent with primary amenorrhea but nml breast nml hair dev and nml testosteroneMullerian agenesis/Mayer-Rokitansky-Kuster-Hauser syndrome 46(XX)Adolescent with primary amenorrhea nml breast dev minimal hair and high testosterone levelAndrogen Insensitivity (46XY)Adolescent with primary amenorrhea no secondary sex characteristics and nml int and ext genitaliaSwyer's syndrome (46XY)17 a-hydroxylase deficiencyNo genital ambiguity HTN low cortisol, estrogen and testosteroneluteomas secrete? What does this cause?Luteomas secrete 5 a-reductase High DHT is not aromatized by the placenta causing mom and fetus to virilizeLOW/Absent testosterone Gynecomastia HTN(2)17-OH Steroid Dehydrogenase Def 17 a Hydroxylase defClasses of uterine malformations1. Vaginal agenesis 2. Unicornate -Do IVP 3. Didelphys 2 cervixes , vaginal septum 4. Bicornate - DX: laparoscopy 5. Septum- MC structural anomaly highest incidence in repro failure 6 arcuate 7. in utero DES exposureLow 17-OHP17a-OH Def OR 3b hydroxysteroid dehydrogenase def