Pathology Flashcards
Klinefelter syndrome
Male (47,XXY) – testicular atrophy, tall/long estremities, gynecomastia, female hair distribution, azoospermia, increased FSH (dysgenesis of seminiferous tubules) and increased LH/estrogen, decreased testosterone (abnormal Leydig cell function)
Turner syndrome
Female (45, XO) – short stature, streak ovaries, no breast development, bicuspid aortic valve, preductal coarctation (femoral less than brachial pulse), lymphatic defects (webbed neck, cystic hygroma, edema in hands/feet), horseshoe kideny — MCC primary amenorrhea (no barr body) – MENOPAUSE BEFORE MENARCHE —Normal pubic hair but no breast development or menarche — missing SHOX gene (decreased bone growth) — decreased estrogen leads to increased LH and FSH — MC is paternal meiotic nondisjunction
Double Y males
XYY - very tall, severe acne, learning disability, antisocial personality disorder (extreme anger) – paternal meiosis II issue
True hermaphroditism
46XX or 47XXY – Ovarian and testicular tissue present
Female pseudohermaphrodite
XX - ovaries present but external genitalia are virilized or ambiguous – inappropriate exposure to androgenic steroids
Male pseudohermaphrodite
XY - testes present but external genitalia are female or ambiguous – MC form is androgen insensitivity syndrome
Aromatase deficiency
Masculinization of female, ambiguous genitalia, increased serum testosterone – can have maternal vilirzation (deep voice, etc.)
Androgen insensitivity syndrome
XY – defect in androgen receptor in normal appearing female – female external genitalia, rudimentary vagina, no uterus/fallopian tubes, have testes, increased testosterone/estrogen/LH, normal FSH levels
5a reductase deficiency
Autosomal recessive – no testosterone to DHT – ambiguous genitalia until puberty then testosterone can cause masculinzation – normal internal genitalia
Kallmann syndrome
Failure to complete puberty (hypogonadotropic hypogonadism) – defective migration of GnRH cells and formation of olfactory bulb – decreased GnRH synthesis in hypothalamus, anosmia – decreased GnRH/FSH/LH/test – infertility – mutation in KAL-1 gene
Complete hydatidiform mole
46XX or 46XY (complete paternal origin) – HUGE HUGE hCG levels – increased uterine size – enucleated egg with single sperm – risk for malignant trophoblastic disease (20%) – first trimester bleeding, enlarged uterus, hyperemesis, pre-eclampsia — “snow storm”, “grape clusters”, “honeycombed”
Partial hydatidiform mole
69XXX, 69XXY, or 69XYY – contains 2 sperm and 1 egg – has fetal parts – low risk of malignancy – vaginal bleeding, abdominal pain
Gestational hypertension
BP > 140/90 AFTER WEEK 20 – Tx: (a-methyldopa, labetalol, hydralazine, nifedipine)
Preeclampsia
New onset HTN with PROTEINURIA or END ORGAN DAMAGE after WEEK 20 — d/t abnormal placental spiral arteries — can cause placental abruption, coagulopathy, renal failure, eclampsia – Tx: antiHTNs, IV MgSulfate, delivery at 34 weeks
Eclampsia
Preeclampsia + SEIZURES – death d/t stroke, intracranial hemorrhage, or ARDS — IV Mg Sulfate and anti-HTNs to stabilize then IMMEDIATE DELIVERY
HELLP Syndrome
Hemolysis, Elevated Liver enzymes, Low Platelets – schistocytes on blood smear – IMMEDIATE DELIVERY
Triple test (16-18 weeks gestation)
AFP - increased in dating error (MC), NTDs, abdominal wall defects - decreased in Downs —- Estriol - decreased in placental insufficiency —- hCG - increased in choriocarcinoma, hydaditiform mole
Placental abruption
Separation of placenta from uterine wall — caused by trauma, smoking, HTN, cocaine – ABRUPT, PAINFUL bleeding in THIRD trimester – possible DIC, maternal shock, fetal distress
Placenta accreta/increta/percreta
Defective decidual layer causes attachment after delivery — risk factors (prior C-section, inflammation) – accreta (attaches to myometrium), increta (into myometrium), percreta (perforates through myometrium into uterine serosa and bladder/rectum) — Postpartum bleeding (Sheehan syndrome)
Placenta previa
Attachment of placenta over internal cervical os — risk factors (prior C section, multiparity) – PAINLESS third trimester bleeding — DON’T DO A GYN EXAM!!!! (Extreme bleeding)
Vasa previa
Fetal vessels run over cervical os – vessel rupture – presents with membrane rupture, painless bleeding, fetal bradycardia — emergency C section
Ectopic pregnancy
MC in ampulla of fallopian tube (decidual endometrium with NO CHORIONIC VILLI) — history of amenorrhea, lower than expected hCG rise, sudden lower abdominal pain – commonly mistaken for appendicitis — risks (infertility, PID, ruptured appendix, prior tubal surgery)
Polyhydramnios
Fetal malformations (duodenal atresia, anencephaly – inability to swallow amniotic fluid), maternal diabetes, multiple gestations
Oligohydramnios
Placental insufficiency, bilateral renal agenesis, posterior urethral valves — Potter sequence
Vaginal tumors
SCC (secondary to cervical SCC), clear cell adenocarcinoma (exposure to DES in utero), Sarcoma botryoides (girls less than 4, spindle shaped cells and desmin +)
Cervical dysplasia
Disorder growth begins at basal layer of SC junction (transition zone) — HPV 16/18 – E6 (inhibits p53) and E7 (inhibits RB) – asymptomatic or abnormal vaginal bleeding – risks (multiple sexual partners, smoking, sex at young age, HIV infection)
Cervical SCC
Pap smear can catch koilocytes before it progresses to invasive – diagnose with colposcopy and biopsy – lateral invasion can block ureters and cause renal failure
Anovulation causes
PREGNANCY, PCOS, obesity, HPO axis abnormalities, premature ovarian failure, hyperprolactinemia, thyroid disorders, eating disorders, competitive athletes, Cushing syndrome, adrenal insufficiency
PCOS (Polycystic ovarian syndrome)
Hyperinsulinemia increases LH:FSH, increases androgens, and decreases rate of follicular maturation –> unrupturee follicles (cysts) and anovulation – amenorrhea/oligomenorrhea, hirsutism (hyperandrogens), acne – obesity, increased risk of endometrial cancer/atherosclerosis – MCC INFERTILITY — Tx: lose weight, OCPs, clomiphene citrate, ketoconazole, spironolactone
Ovarian neoplasm general info
MC adnexal mass in women > 55 – most malignant tumors are epithelial – increased risk with age, infertility, endometriosis, PCOS, BRCA, HNPCC – decreased risk with pregnancies, breastfeeding, OCPs, tubal ligation – CA 125 LEVELS (monitor, not screening)
Serous cystadenoma
Benign - MC ovarian neoplasm - fallopian tube like epithelium, BILATERAL
Mucinous cystadenoma
Benign - Multioculated, LARGE – lined with mucus secreting epithelium