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USMLE 1 > Reproductive- Phatology > Flashcards

Reproductive- Phatology Flashcards

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USMLE® Step 1 flashcards
1
Q

Klinefelter syndrome

  • Genetica
  • Clinical features
A

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

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2
Q

Turner syndrome

  • Genetics
  • Clinical features
A

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.

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3
Q

Double Y males

  • Genetics
  • Clinical associations
A

47, XYY.

Phenotypically normal (usually undiagnosed), very tall. Normal fertility.

May be associated with severe acne, learning disability, autism spectrum disorders.

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4
Q

Ovotesticular disorder of sex development

  • Genetics
  • Clinical features
A

46,XX > 46,XY.

Both ovarian and testicular tissue present (ovotestis); ambiguous genitalia. Previously called true hermaphroditism.

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5
Q

Diagnosing disorders of sex hormones

Disorders by physical characteristics

A

Pag. 621

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6
Q

46,XX DSD (disorders of se development)

A

Ovaries present, but external genitalia are virilized or ambiguous.

Due to excessive and inappropriate exposure to androgenic steroids during early gestation

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7
Q

46,XY DSD (disorders of se development)

A

Testes present, but external genitalia are female or ambiguous. Most common form is androgen insensitivity syndrome (testicular feminization).

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8
Q

Placental aromatase deficiency

A

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).

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9
Q

Androgen insensitivity syndrome

  • Genetics
  • Clinical features
A

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 .

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10
Q

5α-reductase deficiency

  • Genetics
  • Clinical features
A

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.

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11
Q

Kallmann syndrome

  • Phatophysioogy
  • Clinical features
A

hypogonadotropic hypogonadism. Defective migration
of GnRH-releasing neurons

hyposmia/anosmia; Low GnRH, FSH, LH, testosterone. Infertility (low sperm count in males; amenorrhea in females).

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12
Q

Hydatidiform mole

  • Phatophysiology
  • Presentation
  • Treatment
A

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.

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13
Q

hCG-mediated sequelae

A

early preeclampsia (before 20 weeks), theca-lutein cysts, hyperemesis gravidarum, hyperthyroidism.

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14
Q

Complete mole and Partial mole

A

Pag. 622

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15
Q

Choriocarcinoma

A

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 Ž “cannonball” metastases

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16
Q

Abruptio placentae

  • Phatology
  • Presentation
  • Risk factors
A

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

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17
Q

Morbidly adherent placenta

  • Phatology
  • Risk factors
A

Defective decidual layer Ž 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 Ž postpartum bleeding

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18
Q

Morbidly adherent placenta

- Types

A

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).

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19
Q

Placenta previa

  • Phatology
  • Risk factors
  • Presetation
A

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.

20
Q

Vasa previa

  • Phatology
  • Presentation
A

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).

21
Q

Postpartum hemorrhage

- Etiology

A

Due to 4 T’s:
Tone (uterine atony; most common),
Trauma (lacerations, incisions, uterine rupture), Thrombin (coagulopathy),
Tissue (retained products of conception).

22
Q

Ectopic pregnancy

A

Suspect with history of amenorrhea, lower-than-expected rise in hCG based on dates, and sudden lower abdominal pain; confirm with ultrasound

23
Q

Ectopic pregnancy

- Risk factors

A 
Risk factors:
ƒƒ Prior ectopic pregnancy
ƒƒHistory of infertility
ƒƒ Salpingitis (PID)
ƒƒ Ruptured appendix
ƒƒ Prior tubal surgery
ƒƒ Smoking
ƒƒ Advanced maternal age
24
Q

Amniotic fluid abnormalities

- Polyhydramnios

A

Too much amniotic fluid.

Often idiopathic, but associated with fetal malformations, maternal diabetes, fetal anemia, multiple gestations

25
Q

Amniotic fluid abnormalities

- Oligohydramnios

A

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

26
Q

Gestational hypertension

  • Definition
  • Treatment
A

BP > 140/90 mm Hg after 20th week of gestation

Treatment: antihypertensives (Hydralazine, α-Methyldopa, Labetalol, Nifedipine), deliver at 37–39 weeks.

27
Q

Preeclampsia

  • Definition
  • Treatment
A

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

28
Q

Preeclampsia

  • Risk factors
  • Complications
A

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

29
Q

Eclampsia

  • Definition
  • Complications
  • Treatment
A

Preeclampsia + maternal seizures.

Maternal death due to stroke, intracranial hemorrhage, or ARDS.

Treatment: IV magnesium sulfate, antihypertensives, immediate delivery.

30
Q

HELLP syndrome

  • Definition
  • Complications
  • Treatment
A

Hemolysis, Elevated Liver enzymes, Low Platelets Blood smear shows schistocytes.

Can lead to DIC and hepatic subcapsular hematomas Ž rupture Ž severe hypotension.

Treatment: immediate delivery

31
Q

Gynecologic tumor epidemiology

A

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).

32
Q 
Vulvar pathology (Non-neoplastic)
- Bartholin cyst and abscess
A

May lead to abscess 2° to obstruction and inflammation.

Usually in reproductive-age females. Associated with N
gonorrhoeae infections.

33
Q 
Vulvar pathology (Non-neoplastic)
- Lichen sclerosus
A

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

34
Q 
Vulvar pathology (Non-neoplastic)
- Lichen simplex chronicus
A

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.

35
Q 
Vulvar pathology (neoplastic)
- Vulvar carcinoma
A

Carcinoma from squamous epithelial lining of vulva. Rare. Presents with leukoplakia, biopsy often required

36
Q 
Vulvar pathology (neoplastic)
- Extramammary Paget disease
A

Intraepithelial adenocarcinoma. Carcinoma in situ, low risk of underlying carcinoma. Presents with pruritus, erythema, crusting, ulcers

37
Q

Vaginal tumors

  • Vaginal squamous cell carcinoma
  • Clear cell adenocarcinoma
  • Sarcoma botryoides
A

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

38
Q

Dysplasia and carcinoma in situ (cervical)

A

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).

39
Q

Cervical Invasive carcinoma

A

Often squamous cell carcinoma

Diagnose via colposcopy and biopsy. Lateral invasion can block ureters Ž renal failure.

40
Q

Primary ovarian insufficiency (premature ovarian failure)

A

Premature atresia of ovarian follicles in women of reproductive age. Most often idiopathic

Need karyotype screening.

Low estrogen, High LH, FSH.

41
Q

Most common causes of anovulation

A

Pregnancy, polycystic ovarian syndrome, obesity, HPO axis abnormalities, premature ovarian failure, hyperprolactinemia, thyroid disorders, eating disorders, competitive athletics, Cushing syndrome, adrenal insufficiency, chromosomal abnormalities

42
Q

Polycystic ovarian syndrome (Stein-Leventhal syndrome)

  • Diagnostic
  • Presentation
A

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

43
Q

Polycystic ovarian syndrome (Stein-Leventhal syndrome)

- Treatment

A

Cycle regulation via weight reduction, OCPs (prevent
endometrial hyperplasia due to unopposed estrogen); clomiphene, metformin to induce ovulation; spironolactone, ketoconazole (antiandrogens) to treat hirsutism

44
Q

Ovarian cysts

- Follicular cyst

A

Distention of unruptured graafian follicle. May be associated with hyperestrogenism, endometrial hyperplasia.

Most common ovarian mass in young women

45
Q

Ovarian cysts

- Theca-lutein cyst

A

Often bilateral/multiple. Due to gonadotropin stimulation. Associated with choriocarcinoma and
hydatidiform moles

USMLE 1 (73 decks)

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