UWorld & NBME Practice Tests Question and Answer

Fetal hydantoin syndrome - D/t use of phenytoin or other anti-epileptic (*valproic acid, carbamazepine*), which can cross the placenta, generating *low folate* and high oxidative metabolites. Results in *cleft lip and palate, wide anterior fontanelle, distal phalange hypoplasia, cardiac anomalies, neural tube defects, microcephaly*, causing developmental delay and poor cognitive outcomes. Of these risks, *neural tube defects* is the *greatest*. Fetal alcohol syndrome - Can present w/ microcephaly and midfacial hypoplasia No association w/ cleft lip or palate Cocaine use during pregnancy - Preterm delivery, abruptio placentae, and fetal growth restriction No association w/ congenital defects Use of ACEIs in pregnancy - Can cause fetal renal failure, associated oligohydramnios, resulting in pulmonary hypoplasia, growth restriction, and limb defects Congential syphilis - Most commonly *asymptomatic at birth*, but if symptomatic, typically have *rhinitis (snuffles), hepatomegaly*, and *maculopapular rash*. Saddle nose, saber shins Organism: spirochete AIS - X-linked androgen receptor mutation. Patient is male genotype but female phenotype, with breasts and normal external genitalia. However, she has a *short vagina* with *no cervix*, *minimal pubic hair* (androgen-dependent development), *male-level testosterone*, and *primary amenorrhea* (no uterus) Dx with *karyotype analysis* 5 alpha reductase deficiency - Genotypically male but *can't convert testosterone to DHT*, and so appears *phenotypically female at birth* but develops *virilization (clitoromegaly)* at *puberty*, along with *no breast development* Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) - *totally normal female development* (pubic and axillary hair, breasts) and *female-range testosterone*, but *no female internal genitalia*, causing a *primary amenorrhea* Sertoli-Leydig cell tumors - sex-cord stromal ovarian tumor that *produces testosterone* Presents with rapid *virilization*, *voice deepening* (often irreversible!), and *large adnexal mass* Turner Syndrome - Patient is XO, *short* stature, *webbed neck*, *small breasts*, has a *uterus* but many do not have periods due to *poor gonadal function* Can screen for *high FSH* Intraductal papilloma - *benign tumor* in milk duct that causes *unilateral, bloody nipple discharge* with *no associated mass or lymphadenopathy* Dx work-up includes mammography (typically normal), US, biopsy +/- incision. Although you can guess it's benign, unilateral or bloody discharge requires some kind of workup (I think) Fat necrosis of the breast - benign and occurs 2/2 trauma Presents as *firm, irregularly shaped mass* Mammography shows *oil cysts* Pathology involves foamy macrophages