Pathology

Question 1

Klinefelter syndrome

Answer 1

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)

Question 2

Turner syndrome

Answer 2

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

Question 3

Double Y males

Answer 3

XYY - very tall, severe acne, learning disability, antisocial personality disorder (extreme anger) – paternal meiosis II issue

Question 4

True hermaphroditism

Answer 4

46XX or 47XXY – Ovarian and testicular tissue present

Question 5

Female pseudohermaphrodite

Answer 5

XX - ovaries present but external genitalia are virilized or ambiguous – inappropriate exposure to androgenic steroids

Question 6

Male pseudohermaphrodite

Answer 6

XY - testes present but external genitalia are female or ambiguous – MC form is androgen insensitivity syndrome

Question 7

Aromatase deficiency

Answer 7

Masculinization of female, ambiguous genitalia, increased serum testosterone – can have maternal vilirzation (deep voice, etc.)

Question 8

Androgen insensitivity syndrome

Answer 8

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

Question 9

5a reductase deficiency

Answer 9

Autosomal recessive – no testosterone to DHT – ambiguous genitalia until puberty then testosterone can cause masculinzation – normal internal genitalia

Question 10

Kallmann syndrome

Answer 10

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

Question 11

Complete hydatidiform mole

Answer 11

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”

Question 12

Partial hydatidiform mole

Answer 12

69XXX, 69XXY, or 69XYY – contains 2 sperm and 1 egg – has fetal parts – low risk of malignancy – vaginal bleeding, abdominal pain

Question 13

Gestational hypertension

Answer 13

BP > 140/90 AFTER WEEK 20 – Tx: (a-methyldopa, labetalol, hydralazine, nifedipine)

Question 14

Preeclampsia

Answer 14

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

Question 15

Eclampsia

Answer 15

Preeclampsia + SEIZURES – death d/t stroke, intracranial hemorrhage, or ARDS — IV Mg Sulfate and anti-HTNs to stabilize then IMMEDIATE DELIVERY

Question 16

HELLP Syndrome

Answer 16

Hemolysis, Elevated Liver enzymes, Low Platelets – schistocytes on blood smear – IMMEDIATE DELIVERY

Question 17

Triple test (16-18 weeks gestation)

Answer 17

AFP - increased in dating error (MC), NTDs, abdominal wall defects - decreased in Downs —- Estriol - decreased in placental insufficiency —- hCG - increased in choriocarcinoma, hydaditiform mole

Question 18

Placental abruption

Answer 18

Separation of placenta from uterine wall — caused by trauma, smoking, HTN, cocaine – ABRUPT, PAINFUL bleeding in THIRD trimester – possible DIC, maternal shock, fetal distress

Question 19

Placenta accreta/increta/percreta

Answer 19

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)

Question 20

Placenta previa

Answer 20

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)

Question 21

Vasa previa

Answer 21

Fetal vessels run over cervical os – vessel rupture – presents with membrane rupture, painless bleeding, fetal bradycardia — emergency C section

Question 22

Ectopic pregnancy

Answer 22

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)

Question 23

Polyhydramnios

Answer 23

Fetal malformations (duodenal atresia, anencephaly – inability to swallow amniotic fluid), maternal diabetes, multiple gestations

Question 24

Oligohydramnios

Answer 24

Placental insufficiency, bilateral renal agenesis, posterior urethral valves — Potter sequence

Question 25

Vaginal tumors

Answer 25

SCC (secondary to cervical SCC), clear cell adenocarcinoma (exposure to DES in utero), Sarcoma botryoides (girls less than 4, spindle shaped cells and desmin +)

Question 26

Cervical dysplasia

Answer 26

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)

Question 27

Cervical SCC

Answer 27

Pap smear can catch koilocytes before it progresses to invasive -- diagnose with colposcopy and biopsy -- lateral invasion can block ureters and cause renal failure

Question 28

Anovulation causes

Answer 28

PREGNANCY, PCOS, obesity, HPO axis abnormalities, premature ovarian failure, hyperprolactinemia, thyroid disorders, eating disorders, competitive athletes, Cushing syndrome, adrenal insufficiency

Question 29

PCOS (Polycystic ovarian syndrome)

Answer 29

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

Question 30

Ovarian neoplasm general info

Answer 30

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)

Question 31

Serous cystadenoma

Answer 31

Benign - MC ovarian neoplasm - fallopian tube like epithelium, BILATERAL

Question 32

Mucinous cystadenoma

Answer 32

Benign - Multioculated, LARGE -- lined with mucus secreting epithelium

Question 33

Endometrioma

Answer 33

Benign - Endometriosis within ovary with cyst formation -- pelvic pain, chocolate cyst, symptoms vary with menstrual cycle

Question 34

Mature cystic teratoma

Answer 34

Benign - MC in ages 20-30 -- germ cell tumor -- cystic mass with elements from all 3 germ layers -- pain secondary to ovarian enlargement or torsion -- functional thyroid tissue (hyperthyroidism)

Question 35

Brenner tumor

Answer 35

Benign - looks like Bladder -- pale yellow/tan and encapsulated -- coffee Bean nuclei

Question 36

Fibromas

Answer 36

Benign - bundles of spindle shaped fibroblasts -- associated with Meigs syndrome

Question 37

Thecoma

Answer 37

Benign - may produce estrogen -- abnormal uterine bleeding in postmenopausal women

Question 38

Immature teratoma

Answer 38

Malignant - AGGRESSIVE - contains fetal tissue, neuroectoderm

Question 39

Granulosa cell tumor

Answer 39

Malignant -- MC malignant stromal tumor -- women in 50s -- make estrogen/progesterone and have abnormal uterine bleeding, breast tenderness -- Call Exner bodies (granulosa cells arranged haphazardly around collections of eosinophilic fluid)

Question 40

Serous cystadenocarcinoma

Answer 40

Malignant - psammoma bodies - BILATERAL

Question 41

Mucinous cystadenocarcinoma

Answer 41

Malignant - Pseudomyxoma peritonei-intraperitoneal accumulation of mucinous material

Question 42

Dysgerminoma

Answer 42

Malignant - MC in adolescents -- uniform fried egg cells -- hCG and LDH (tumor markers)

Question 43

Choriocarcionoma

Answer 43

Malignant - during/after pregnancy in mom or baby -- trophoblastic tissue (no chorionic villi) -- abnormal increase in BhCG, shortenss of breath, hemoptysis -- spreads to lungs

Question 44

Yolk sac tumor

Answer 44

Malignant - AGGRESSIVE - MC tumor in male infants (in ovaries/testes) -- yellow, friable mass -- Schiller-Duval bodies (look like glomeruli) -- AFP tumor marker

Question 45

Endometrial polyp

Answer 45

Well circumscribed - endometrial tissue in uterine wall

Question 46

Leiomyoma (fibroid)

Answer 46

MC tumor in females (increased in blacks) -- often have multiple discrete tumors -- BENIGN smooth muscle tumor -- increase size with pregnancy, decrease with menopause -- MC in age 20-40 -- asymptomatic, uterine bleeding, or miscarriage -- can cause iron deficiency anemia -- WHORLED smooth muscle bundles

Question 47

Adenomyosis

Answer 47

Endometrial tissue in uterine myometrium -- hyperplasia of basal layer of endometrium -- dysmenorrhea, menorrhagia -- Tx: GnRH agonist, hysterectomy

Question 48

Endometriosis

Answer 48

Endometrial tissue outside endometrial cavity -- MC sites (ovary, pelvis, peritoneum) -- chocolate cyst in ovary -- d/t retrograde flow, or metaplastic transformation -- cyclic pelvic pain, dyspareunia, infertility, dyschezia -- Tx: NSAIDs, OCPs, progestins, GnRH agonists, danazol, lap removal

Question 49

Endometritis

Answer 49

Endometrial inflammation -- retained products of conception or foreign body -- infection by bacterial flora from vagina or GI tract (mixed flora - Bacteroides) -- Tx: Gentamicin plus clindamycin

Question 50

Endometrial hyperplasia

Answer 50

Abnormal endometrial gland proliferation d/t excess estrogen -- increases cancer risk -- PM vaginal bleeding -- risks (anovulatory cycles, PCOS, hormone replacement, granulosa cell tumor)

Question 51

Endometrial carcinoma

Answer 51

MC gyn malignancy -- peak at age 55-65 -- vaginal bleeding --- preceeded by endometrial hyperplasia -- risks (prolonged estrogen use, obesity, DM, HTN, nulliparity, late menopause, Lynch)

Question 52

Fibroadenoma

Answer 52

Benign - small, mobile, firm mass with sharp edges in breast stroma -- MC tumor in women less than 35 --- increase size and tenderness with increased estrogen -- NOT PRECANCEROUS

Question 53

Intraductal papilloma

Answer 53

Benign - small tumor in lactiferous ducts -- MCC bloody nipple discharge

Question 54

Phyllodes tumor

Answer 54

Benign -- large, bulky tumor with leaf like projections in stroma of breast

Question 55

Proliferative breast disease

Answer 55

Lumpy, bumpy breast from age 25 to menopause -- fluctuation in size of mass -- common in upper outer quadrant -- can be fibrosis, cystic, sclerosing adenosis (calcification), or epithelial hyperplasia (terminal duct lobule, increased risk of cancer)

Question 56

Lactational mastitis

Answer 56

During breastfeeding -- infection through cracks in nipple - S. aureus is most common - Tx: Dicloxacillin

Question 57

Fat necrosis

Answer 57

Benign, painless lump -- injury to breast tissue -- abnormal calcifications on mammography -- necrotic fat and giant cells

Question 58

Gynecomastia

Answer 58

Hyperestrogenism in males, Kleinfelter, drugs --- Some Drugs Create Awesome Knockers (Spironolactone, Digoxin, Cimetidine, Alcohol, Ketoconazole)

Question 59

Malignant breast tumor general info

Answer 59

Mostly postmenopausal -- terminal duct lobular unit --- ER or PER receptors, HER2/neu (c-erbB2) receptor -- Triple negative is most aggressive (more in African Americans) -- axillary lymph node involvement is most important prognostic factor -- upper outer quadrant -- risks (increased estrogen exposure, increased total menstrual cycles, older age at 1st birth, obesity, BRCA) --- nipple retraction (infiltration of suspensory ligaments), orange skin (blocked lymphatics)

Question 60

Ductal carinoma in situ

Answer 60

Fills ductal lumen -- microcalcifications on mammography Comedocarcinoma is subtype of DCIS -- ductal, central necrosis

Question 61

Paget disease

Answer 61

Underlying DCIS or invasive breast cancer -- eczematous patches on nipple -- large cells in epidermis with clear halo

Question 62

Invasive ductal carcinoma

Answer 62

Firm, fibrous, rock hard mass with sharp margins -- "stellate" infiltration) -- MC (worst and most invasive)

Question 63

Invasive lobular carcinoma

Answer 63

Orderly row of cells (Indian file) -- decreased E-cadherin expression -- often bilateral

Question 64

Medullary breast carcinoma

Answer 64

Lymphocytic infiltrate -- GOOD PROGNOSIS

Question 65

Inflammatory breast carcinoma

Answer 65

Dermal lymphatic invasion -- peau d'orange

Question 66

Peyronie disease

Answer 66

Fibrous plaque in tunica albuginea so abnormal curvature of penis -- surgical repair

Question 67

Priapism

Answer 67

Painful sustained erection lasting > 4 hours -- trauma, sickle cell disease, medications -- Tx: corporal aspiration, intracavernosal phenylephrine, or surgery

Question 68

Squamous cell carcinoma of penis

Answer 68

Precursors are Bowen disease (shaft leukoplakia), erythroplasia of Queyrat (glans), Bowenoid papulosis (reddish papule) --- associated with HPV, lack or circumcision

Question 69

Cryptorchidism

Answer 69

Undescended testis -- impaired spermatogenesis d/t temperature damage of sertoli cells -- normal testosterone levels (Leydig cells unaffected) -- increased risk of germ cell tumors -- decreased inhibin, increased FSH/LH

Question 70

Varicocele

Answer 70

Dilated veins in pampiniform plexus due to incrased venous pressure -- on LEFT SIDE -- "bag of worms" -- infertility d/t increased temperature -- Tx: varicocelectomy

Question 71

Hydrocele

Answer 71

Congentital (scrotal swelling in infants d/t incomplete obliteration of processus vaginalis) --- Acquired (scrotal fluid collection d/t infection, trauma, tumor) -- TRANSILLUMINATE

Question 72

Spermatocele

Answer 72

Cyst due to dilated epididymal duct

Question 73

Testicular germ cell tumor risks

Answer 73

MC in young men -- risks are cryptorchidism and Klinefelter syndrome --- TESTICULAR MASS THAT DOESN'T ILLUMINATE = CANCER!!!! (95% germ cell)

Question 74

Seminoma

Answer 74

Malignant, painless, homogenous testicular enlargement --- MC tumor -- large cells in lobules with watery cytoplasm and fried egg cells --- increased placental ALP -- RADIOSENSITIVE!

Question 75

Yolk sac tumor

Answer 75

Yellow, mucinous -- Schiller Duval bodies -- increased AFP -- MC in boys less than 3

Question 76

Choriocarcinoma

Answer 76

Malignant, increased hCG (abnormal syncytiotrophoblasts and cytotrophoblasts) -- hematogenous mets to lungs and brain -- gynecomastia and hyperthyroidism in men (testicular germ cell) or vaginal bleedinga nd uterine enlargement in women (common after hydaditiform mole, abortion, or pregnancy)

Question 77

Teratoma

Answer 77

Mature teratoma in adult males can be malignant, benign in children -- increased hCG and/or AFP

Question 78

Embryonal carcinoma

Answer 78

Malignant, hemorrhagic mass with necrosis, painful -- glandular/papillary morphology -- MC mixed with other tumor types -- increased hCG and normal AFP levels when pure

Question 79

Non-germ cell tumors

Answer 79

Leydig cell (Reinke crystals, produce androgens, golden brown color) -- Sertoli cell (androblastoma) -- testicular lymphoma (MC testicular cancer in older men)

Question 80

Benign prostatic hyperPLASIA

Answer 80

Men > 50 -- firm nodular enlargement of PERIURETHRAL lobes (compress urethra into vertical slit) -- NOT A PRECURSOR TO CANCER -- increased frequency of urination, dysuria, distention and HYPERTROPHY of bladder -- Tx: a-antagonists (terazosin, tamsulosin), 5a reductase inhibitors (finasteride), PDE-5 inhibitors (sildenafil)

Question 81

Prostatitis

Answer 81

Dysuria, frequency, urgency, low back pain -- young (Chlamydia or gonorrhea) -- old (pseudomonas)

Question 82

Prostatic adenocarcinoma

Answer 82

Men > 50 -- POSTERIOR LOBE (peripheral zone) -- increased PSA -- OSTEOBLASTIC to vertebrae, ribs, and pelvis -- increased serum ALP and decreased Calcium