Reproductive Pathology Flashcards

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1
Q

Testicular atrophy, enuchoid body shape, tall, long extremities, gynecomastia, female hair distribution

A

Klinefelter Syndrome (47XXY). Presence of inactivation of X chromosome–Barr body. Infertility. Dygenesis of seminiferous tubules–decreased inhibin, increased FSH. Abnormal Leydig cell function–decreased testosterone, increased LH, increased estrogen.

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2
Q

Short stature, streak ovary, shield chest, bicuspid aortic valve, preductal coarctation, webbed neck, cystic hygroma, lymphedema, horseshoe kidney

A

Turner (45XO or 45XO/46XX mosaic) syndrome. Most common cause of primary amennorhea. Menopause before menarche (decreased estrogen–>increased LH, FSH).

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3
Q

phenotypically normal males, very tall, severe acne, with antisocial behavior, possible autism

A

Double Y males 47XYY

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4
Q

true hermaphroditism

A

46XX or 47XXY–very rare

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5
Q

ovaries present but external genitalia are virilized or ambiguous

A

Congenital adrenal hyperplasia, early and excessive exposure to androgens

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6
Q

Testes present but external genitalia are female or ambiguous

A

most commonly androgen insensitivity syndrome

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7
Q

masculinization of female (46XX) infants with increased serum testosterone and androsteonedione

A

Aromatase deficiency. Fetal androgens can cross placenta and cause maternal virilization

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8
Q

normal appearing female, female external genitalia usually underdeveloped vagine, uterus/fallopian tubes generally absent, testes usually found in labia majora

A

Androgen insensitivity syndrome (46XY). Increased testosterone, estrogen, and LH (vs sex chromosome disorders).

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9
Q

male ambiguous genitalia until puberty

A

5alpha-reductase deficiency–autosomal recessive 46XY, cannot convert testosterone to DHT; normal testoterone/estrogen levels, LH is normal or increased, internal genitalia are normal

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10
Q

failure to complete puberty, anosmia, infertility

A

Kallman syndrome–form of hypogonadotropic hypogonadism; defective migration of GnRH cells and formation of olfactory bulb–>decreased synthesis of GnRH (hypothalamus)–>decreased FSH, LH–>decreased testosterone–>infertility (low sperm count, amenorrhea)

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11
Q

Complete Mole

A

46XX or 46XY, super high hCG, increased uterine size, can convert to choriocarcinoma, no fetal parts, enucleated egg+single sperm that subsquently duplicates, malignant trophoblastic disease, vaginal bleeding/large uterus/hyperemesis/pre-eclampsia/hyperthyroidism; honeycombed uterus/clusters of grapes/snowstorm on ultrasound

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12
Q

Partial Mole

A

69XXX/XXY/XYY; slightly high hCG; fetal parts; 2 sperm 1 egg; low risk of malignancy; vaginal bleeding/pain; see fetal parts on US

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13
Q

treatment of gestational HTN

A

alpha-methyldopa, labetalol, hydralazine, nifedipine, deliver at 39 weeks

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14
Q

hypertension > 140/90 with proteinuria after 20th week of gestation

A

Pre-eclampsia–abnormal placental spiral arteries (oliguria, elevated AST/ALT, thrombocytopenia)–Tx with antiHTN, deliver 34 weeks/37 weeks, IV MgSO4 to prevent seizures

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15
Q

Pre-eclampsia < 20 weeks gestation

A

suggestive of molar pregnancy

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16
Q

Eclampsia

A

Preeclampsia + maternal seizures–death due to stroke, intracranial hemorrhage, ARDS

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17
Q

HELLP syndrome

A

Hemolysis, elevated liver enzymes, low platelets–manifestation of severe preeclampsia

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18
Q

history of amennorhea, lower than expected rise in hCG

A

ectopic pregnancy–RFs: hx of infertility, PID, ruptured appendix, prior tubal sugery

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19
Q

HPV types associated with cervical cancer

A

HPV 16/18 produce E6 and E7 gene products which inhibit p53 and Rb (tumor supressors) respectively

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20
Q

ectopic endometrial tissue surrounded by muscle fibers of abdominal wall

A

Endometriosis: cyclic pelvic pain, bleeding, dysmennorhea, dyspareunia, dyschezia, infertility, normal sized uterus; Tx with NSAIDS, OCPs, progestins, GnRH agonists, surgery

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21
Q

uniformly enlarged, soft, globular uterus w/ dysmenorrhea, menorrhagia

A

Adenomyosis: extension of endometrial tissue (glandular) into uterine myometrium (hyperplasia of basalis layer of endometrium); hysterectomy

22
Q

decreased estrogen, increased FSH/LH before age of 40

A

premature ovarian failure

23
Q

amenorrhea/oligomenorrhea, hirsutism, acne, infertility, obesity

A

PCOS: hyperandrogenism due to deranged steroid synthesis by theca cells, hyperinsulinemia; increased LH/FSH (3:1), increased testosterone, increased estrogen; most common cause of infertility in women

24
Q

Tx of PCOS

A

hirsutism/acne: weight reduction, OCPs, antiandrogens; infertility (clomiphene citrate, metformin); endometrial protection: cyclic progesterones

25
Q

ovarian neoplasm with call-exner bodies

A

Granulosa cell tumor (most common sex cord stromal tumor), primordial follicles

26
Q

ovarian neoplasm with psammoma bodies

A

serous cystadenocarcinoma

27
Q

ovarian neoplasm with sheets of uniform “fried egg” cells

A

dysgerminoma, hCG/LDH tumor markers

28
Q

abnormal bhCG, dyspnea, hemoptysis in pregnant woman

A

choriocarcinoma: develop during or after pregnancy, malignancy of trophoblastic tissue; no chorionic villi present; hematogenous spread to lungs

29
Q

yellow, hemorrhagic, solid mass with histology that resemble glomeruli

A

Yolk sac (endodermal sinus) tumor–schiller duval bodies; elevated AFP

30
Q

mucin secreting signet cell adenocarcinoma

A

Krukenberg tumor: GI malignancy mets to ovaries

31
Q

exposure to DES in utero

A

clear cell adenocarcinoma of vagina

32
Q

spindle shaped tumor cells that are desmin+ in vagina

A

sarcoma botryoides (rhabdomyosarcoma variant)

33
Q

small, mobile firm mass that increases in size/tenderness with pregnancy/menstruation

A

fibroadenoma, most common tumor in those < 35 y/o

34
Q

serous or bloody nipple discharge

A

intraductal papilloma; slight increased risk for carcinoma

35
Q

large bulky mass of connective tissue and cysts with leaf-like projections

A

Phyllodes tumor

36
Q

microcalfications on mammography

A

ductal carcinoma in situ–early malignancy w/out basement membrane penetration, noninvasive

37
Q

ductal caseous necrosis (DCIS subtype)

A

comedocarcinoma, noninvasive

38
Q

Eczematous patches on nipple, large cells in epidermis with clear halo

A

Paget cells, Paget disease, results from underlying DCIS, noninvasive

39
Q

firm,fibrous rockhard mass with sharp margins and small glandular duct like cells, gross stellate infiltration

A

invasive ductal carcinoma, most common and worst/most invasive (76% of all breast Ca)

40
Q

invasive breast Ca with orderly row of cells

A

Invasive lobular carcinoma, often bilateral with multiple lesions

41
Q

Fleshy, cellular, lymphocytic infiltrate, invasive breast Ca

A

medullary breast Ca, good prognosis

42
Q

Dermal lymphatic invasion by breast cancer, orange peel skin

A

inflammatory breast cancer, 50% survival at 5 years

43
Q

painless, homogeonous testicular enlargement; large cells in lobules with watery cytoplasm and a fried egg apperance

A

Seminoma; malignant testicular germ cell tumor; most common testicular tumor (never in infancy); increased placental ALP; late mets/good prognosis

44
Q

elevated AFP, yellow, mucinous testicular tumor

A

Yolk sac (endodermal sinus) tumor, Schiller-duval bodies, most common testicular tumor in boys < 3 y/o

45
Q

testicular tumor with increased hCG, dyspnea

A

Choriocarcinoma; hematogenous mets to lungs and brain; may produce gynecomastia or signs of hyperthyroidism (bHCG is analog of LH, FSH, TSH)

46
Q

testicular tumor with increased hCG, increased AFP

A

teratoma–in males can be malignant

47
Q

hemorrhagic testicular mass with necrosis, painful, glandular/papillary morphology

A

Embryonal carcinoma: maligant, often mixed with other tumor types, elevated hCG (pure) and AFP (mixed)

48
Q

Reinke crystals, gynecomastia in men, precocious puberty in boys, golden brown color

A

Leydig cell non-germ cell testicular tumor; androgen producing

49
Q

Leukoplakia on penile shaft

A

Bowen disease–squamous cell carcinoma, HPV associated

50
Q

Erythroplakia on penile shaft

A

erythroplasia of Queyrat, squamous cell cancer of glans, associated with HPV