Reproductive- Phatology Flashcards
Klinefelter syndrome
- Genetica
- Clinical features
Male, 47,XXY
Testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution.
Presence of inactivated X chromosome (Barr body). Common cause of hypogonadism seen in infertility
Turner syndrome
- Genetics
- Clinical features
Female, 45,XO
Short stature, ovarian dysgenesis, shield chest, bicuspid aortic valve, coarctation (femoral < brachial pulse), lymphatic defects, horseshoe kidney.
Most common cause of 1° amenorrhea. No Barr body.
Double Y males
- Genetics
- Clinical associations
47, XYY.
Phenotypically normal (usually undiagnosed), very tall. Normal fertility.
May be associated with severe acne, learning disability, autism spectrum disorders.
Ovotesticular disorder of sex development
- Genetics
- Clinical features
46,XX > 46,XY.
Both ovarian and testicular tissue present (ovotestis); ambiguous genitalia. Previously called true hermaphroditism.
Diagnosing disorders of sex hormones
Disorders by physical characteristics
Pag. 621
46,XX DSD (disorders of se development)
Ovaries present, but external genitalia are virilized or ambiguous.
Due to excessive and inappropriate exposure to androgenic steroids during early gestation
46,XY DSD (disorders of se development)
Testes present, but external genitalia are female or ambiguous. Most common form is androgen insensitivity syndrome (testicular feminization).
Placental aromatase deficiency
Masculinization of female (46,XX DSD) infants (ambiguous genitalia), high serum testosterone and androstenedione.
Can present with maternal virilization during pregnancy (fetal androgens cross the placenta).
Androgen insensitivity syndrome
- Genetics
- Clinical features
Defect in androgen receptor resulting in normal appearing female (46,XY DSD); female external genitalia with scant axillary and pubic hair, rudimentary vagina; uterus and fallopian tubes absent.
Patients develop normal functioning testes (often found in labia majora; surgically removed to prevent malignancy). High testosterone, estrogen, LH .
5α-reductase deficiency
- Genetics
- Clinical features
Autosomal recessive; sex limited to genetic males (46,XY DSD).
Ambiguous genitalia until puberty. Testosterone/ estrogen levels are normal; LH is normal or high. Internal genitalia are normal.
Kallmann syndrome
- Phatophysioogy
- Clinical features
hypogonadotropic hypogonadism. Defective migration
of GnRH-releasing neurons
hyposmia/anosmia; Low GnRH, FSH, LH, testosterone. Infertility (low sperm count in males; amenorrhea in females).
Hydatidiform mole
- Phatophysiology
- Presentation
- Treatment
Cystic swelling of chorionic villi and proliferation of chorionic epithelium (only trophoblast).
Presents with vaginal bleeding, uterine enlargement more than expected, pelvic pressure/pain.
Treatment: dilation and curettage and methotrexate. Monitor β-hCG.
hCG-mediated sequelae
early preeclampsia (before 20 weeks), theca-lutein cysts, hyperemesis gravidarum, hyperthyroidism.
Complete mole and Partial mole
Pag. 622
Choriocarcinoma
Rare; can develop during or after pregnancy in mother or baby. Malignancy of trophoblastic tissue
Presents with abnormal β-hCG, shortness of breath,
hemoptysis. Hematogenous spread to lungs “cannonball” metastases
Abruptio placentae
- Phatology
- Presentation
- Risk factors
Premature separation of placenta from uterine wall before delivery of infant
Presentation: abrupt, painful bleeding in third trimester;
possible DIC, maternal shock, fetal distress.
Risk factors: trauma, smoking, hypertension,
preeclampsia, cocaine abuse
Morbidly adherent placenta
- Phatology
- Risk factors
Defective decidual layer abnormal attachment and separation after delivery.
Prior C-section or uterine surgery involving myometrium, inflammation, placenta previa, advanced maternal age, multiparity
Detected on ultrasound prior to delivery. No separation of placenta after delivery postpartum bleeding
Morbidly adherent placenta
- Types
Placenta accreta—placenta attaches to myometrium without penetrating it; most common type.
Placenta increta—placenta penetrates into myometrium.
Placenta percreta—placenta penetrates through myometrium and into uterine serosa; can result in placental attachment to rectum or bladder (can result in hematuria).
Placenta previa
- Phatology
- Risk factors
- Presetation
Attachment of placenta to lower uterine segment over (or < 2 cm from) internal cervical os.
Risk factors: multiparity, prior C-section.
Associated with painless thirdtrimester bleeding. A “preview” of the placenta is visible through cervix.
Vasa previa
- Phatology
- Presentation
Fetal vessels run over, or in close proximity to, cervical os.
May result in vessel rupture, exsanguination, fetal death. Presents with triad of membrane rupture, painless vaginal bleeding, fetal bradycardia (< 110 beats/min).
Postpartum hemorrhage
- Etiology
Due to 4 T’s:
Tone (uterine atony; most common),
Trauma (lacerations, incisions, uterine rupture), Thrombin (coagulopathy),
Tissue (retained products of conception).
Ectopic pregnancy
Suspect with history of amenorrhea, lower-than-expected rise in hCG based on dates, and sudden lower abdominal pain; confirm with ultrasound
Ectopic pregnancy
- Risk factors
Risk factors: Prior ectopic pregnancy History of infertility Salpingitis (PID) Ruptured appendix Prior tubal surgery Smoking Advanced maternal age
Amniotic fluid abnormalities
- Polyhydramnios
Too much amniotic fluid.
Often idiopathic, but associated with fetal malformations, maternal diabetes, fetal anemia, multiple gestations
Amniotic fluid abnormalities
- Oligohydramnios
Too little amniotic fluid.
Associated with placental insufficiency, bilateral renal agenesis, posterior urethral valves and resultant inability to excrete urine.
Any profound oligohydramnios can cause Potter sequence
Gestational hypertension
- Definition
- Treatment
BP > 140/90 mm Hg after 20th week of gestation
Treatment: antihypertensives (Hydralazine, α-Methyldopa, Labetalol, Nifedipine), deliver at 37–39 weeks.
Preeclampsia
- Definition
- Treatment
New-onset hypertension with either proteinuria or end-organ dysfunction after 20th week of gestation (< 20 weeks suggests molar pregnancy)
Treatment: antihypertensives, IV magnesium sulfate (to prevent seizure); definitive is delivery of fetus
Preeclampsia
- Risk factors
- Complications
Incidence increase in patients with pre-existing
hypertension, diabetes, chronic renal disease, autoimmune disorders
Complications: placental abruption, coagulopathy, renal failure, pulmonary edema, uteroplacental insufficiency; may lead to eclampsia (+ seizures) and/or HELLP syndrome
Eclampsia
- Definition
- Complications
- Treatment
Preeclampsia + maternal seizures.
Maternal death due to stroke, intracranial hemorrhage, or ARDS.
Treatment: IV magnesium sulfate, antihypertensives, immediate delivery.
HELLP syndrome
- Definition
- Complications
- Treatment
Hemolysis, Elevated Liver enzymes, Low Platelets Blood smear shows schistocytes.
Can lead to DIC and hepatic subcapsular hematomas rupture severe hypotension.
Treatment: immediate delivery
Gynecologic tumor epidemiology
USA: endometrial > ovarian > cervical; cervical cancer is more common worldwide
Prognosis “CEO”: Cervical (best prognosis, diagnosed < 45 years old) > Endometrial (middleaged, about 55 years old) > Ovarian (worst prognosis, > 65 years).
Vulvar pathology (Non-neoplastic) - Bartholin cyst and abscess
May lead to abscess 2° to obstruction and inflammation.
Usually in reproductive-age females. Associated with N
gonorrhoeae infections.
Vulvar pathology (Non-neoplastic) - Lichen sclerosus
Thinning of epidermis with fibrosis/sclerosis of dermis. Presents with porcelain-white plaques with a red or violet border
Most common in postmenopausal women. Benign, but slightly increased risk for SCC
Vulvar pathology (Non-neoplastic) - Lichen simplex chronicus
Hyperplasia of vulvar squamous epithelium. Presents with leathery, thick vulvar skin with enhanced skin markings due to chronic rubbing or scratching.
Benign, no risk of SCC.
Vulvar pathology (neoplastic) - Vulvar carcinoma
Carcinoma from squamous epithelial lining of vulva. Rare. Presents with leukoplakia, biopsy often required
Vulvar pathology (neoplastic) - Extramammary Paget disease
Intraepithelial adenocarcinoma. Carcinoma in situ, low risk of underlying carcinoma. Presents with pruritus, erythema, crusting, ulcers
Vaginal tumors
- Vaginal squamous cell carcinoma
- Clear cell adenocarcinoma
- Sarcoma botryoides
Usually 2° to cervical SCC; 1° vaginal carcinoma rare.
Affects women who had exposure to DES in utero.
Embryonal rhabdomyosarcoma variant. Affects girls < 4 years old; spindle-shaped cells; desmin ⊕. Presents with clear, grape-like, polypoid mass emerging from vagina
Dysplasia and carcinoma in situ (cervical)
begins at basal layer of squamocolumnar junction (transformation zone) and extends outward.
Classified as CIN 1, CIN 2, or CIN 3. koilocytes are pathognomonic of HPV infection.
Typically asymptomatic (detected with Pap smear) or presents as abnormal vaginal bleeding (often postcoital).
Cervical Invasive carcinoma
Often squamous cell carcinoma
Diagnose via colposcopy and biopsy. Lateral invasion can block ureters renal failure.
Primary ovarian insufficiency (premature ovarian failure)
Premature atresia of ovarian follicles in women of reproductive age. Most often idiopathic
Need karyotype screening.
Low estrogen, High LH, FSH.
Most common causes of anovulation
Pregnancy, polycystic ovarian syndrome, obesity, HPO axis abnormalities, premature ovarian failure, hyperprolactinemia, thyroid disorders, eating disorders, competitive athletics, Cushing syndrome, adrenal insufficiency, chromosomal abnormalities
Polycystic ovarian syndrome (Stein-Leventhal syndrome)
- Diagnostic
- Presentation
Hyperinsulinemia and/or insulin resistance, Increased androgens, unruptured follicles (cysts) + anovulation.
Presents with amenorrhea/oligomenorrhea, hirsutism, acne, infertility. Associated with obesity. risk of endometrial cancer
Polycystic ovarian syndrome (Stein-Leventhal syndrome)
- Treatment
Cycle regulation via weight reduction, OCPs (prevent
endometrial hyperplasia due to unopposed estrogen); clomiphene, metformin to induce ovulation; spironolactone, ketoconazole (antiandrogens) to treat hirsutism
Ovarian cysts
- Follicular cyst
Distention of unruptured graafian follicle. May be associated with hyperestrogenism, endometrial hyperplasia.
Most common ovarian mass in young women
Ovarian cysts
- Theca-lutein cyst
Often bilateral/multiple. Due to gonadotropin stimulation. Associated with choriocarcinoma and
hydatidiform moles
