Repro - Pathology

ekadar's version from 2016-03-13 07:41

Sex genetic disorders

Question Answer
Karyotype of Klinefelter'sXXY
Cause of Klinefelter'smeiotic non-disjunction
Physical presentation of Klinefelter'stesticular atrophy
Eunuchoid body shape
tall, long extremities
gynecomastia, female hair distribution
Hormone dys'fn of Klinefelter's syndromeDysgenesis of seminiferous tubules → ↓ inhibin → ↑ FSH
Abnormal Leydig cell function → ↓ testosterone → ↑ LH. Increased FSH leads to increased aromatase leading to increased estrogen
Cardiac defects in Turnerspreductal coarctation, and bicuspid aortic vavle
Most common cause of 1° amenorrheaTurner syndrome
↓ estrogen → ↑ LH/FSH
Double Y malesPhenotypically normal
very tall
severe acne
antisocial - some with autism
Normal fertility
Disorder w ↑ testosterone & ↑ LHDefective androgen receptor
Disorder w ↑ Testosterone & ↓ LHTestosterone-secreting tumor, exogenous steroids
Disorder with ↓ Testosterone & ↑ LH1° hypogonadism
Disorder w ↓ testosterone & ↓ LHHypogonadotropic hypogonadism (Kallman's)
Female pseudo-hermaphroditeOvaries are present, but external genitalia are virilized or ambiguous
Male pseudo-hermaphroditeTestes present, but external genitalia are female or ambiguous
MC form is androgen insensitivity syndrome (testicular feminization)
True hermaphroditism46,XX or 47,XXY
both ovary and testicular tissue present
ambiguous genitalia
very rare
Androgen insensitivity syndrome46,XY - defect in androgen receptor resulting in normally appearing female. Patients develop testes usually found in labia majory
5α-reductase deficiencyAutosomal recessive - inability to convert testosterone to DHT
Ambiguous genitalia until puberty until ↑ testosterone causes masculinization and growth
Kallmann syndromeDefective migration of GnRH cells and formation of olfactory bulb
Anosmia w lack of sexual characteristics
↓ synthesis of GnRH in hypothalamus → ↓ FSH/LH/Testosterone/sperm count
Male presents with infertility, lack of 2° sexual characteristics, and the inability to smellKallmann syndrome
Hallmark of diagnosis for 5 alpha reductase deficiencyElevated serum ratio of testosterone to DHT, but testosterone/estrogen levels are normal. LH is normal

Pregnancy complications

Question Answer
PreeclampsiaHTN, proteinuria, edema can also be end organ damage
Eclampsiapreeclampsia (HTN, proteinuria, edema) + seizures
Preeclampsia assoc wHELLP:
Elevated LIver enzymes
Low Platelets
Tx of preeclampsiDeliver baby ASAP
or tx with IV magnesium sulfate to prevent or treat seizures of eclampsia
Tx of HELLP syndromeimmediate delivery
Aburptio placentaePainful bleeding in 3rd trimester
Premature detachment of placenta from implantation site
Assoc with DIC and ↑ risk with smoking, HTN, cocaine use
Placenta accretaMassive bleeding after delivery
Defective decidual layer allows placenta to attach to myometrium - no separation of placenta after birth
↑ risk with prior c-section, inflammation, placenta previa
placenta incretaplacenta penetrates into myometrium
placenta percretaplacenta penetrates through myometrium and into uterine serosa
Placenta previaPainless bleeding during third trimester
Attachment of placenta to lower uterine segment - lies near or extends over cervical os
↑ risk with multiparity and prior C-section
Retained placental tissueMay cause postpartum hemorrhage and ↑ risk of infection
Ectopic pregnancy risk factorsHistory of infertility
Salpingitis (PID)
Ruptured appendix
Prior tubal surgery
Ectopic pregnancyPresents with history of amenorrhea, lower-than-expected ↑ hCG based on dates, and sudden lower abdominal pain - often clinically mistaken for appendicitis
confirm with ultrasound
Endometrial biopsy: decidualized endometrium but no chorionic villi
Polyhydramnios>1.5-2 L of amniotic fluid
Impaired swallowing or increased urination
Assoc w esophageal/duodenal atresia → inability to swallow amniotic fluid
Oligohydramnios<0.5 L of amniotic fluid
Assoc w placental insufficiency, bilateral renal agenesis, or posterior urethral valves (males) → inability to excrete urine
Can give rise to Potter's syndrome
The presence of chorionic villi indicate...Intra-uterine pregnancy
Potter's sequenceoligohydramnios, limb and facial deformities and pulmonary hypoplasia


Question Answer
extremely high B-HCG levelscomplete mole
moral uterine sizepartial mole
friable mass of cystic structures exclusively trophoblasticcomplete mole
complete paternal origincomplete mole
higher risk of malignant trophoblastic diseasecomplete mole
fetal partspartial mole
2 sperms + 1 eggpartial mole
enucleated egg + single spermcomplete mole
snowstorm on ultrasoundcomplete mole
46, XX and 46 X,Ycomplete mole
69 XXX; 69XXY; 69XYYpartial mole

Endometrial Conditions

Question Answer
Risk factors for endometrial hyperplasiaUnopposed estrogen (obese, PCOS, HRT)
PTEN mutation
Menstrual irregularities (meno/metrorrhagia)
Is there a cancer risk with endometrial hyperplasia?YES! Endometrial adenocarcinoma
How do you treat endometrial hyperplasia?Progesterone, Hysterectomy
MC Gynecological malignancyEndometrial carcinoma
Peak age for endometrial adenocarcinoma55-65 y.o.
Excess unopposed estrogen is a risk factorEndometrial hyperplasia + Endometrial carcinoma
Rapid enlargement of uterus (post-menopause)Leiomyosarcoma
Unilateral proliferation of myometrial SMLeiomyosarcoma
What's the prognosis of LeiomyosarcomaMalignant! Aggressive mets to the lung, liver, abdomen. Hemorrhagic necrosis
Plasma cells in the endometriumChronic endometritis
Causes of Endometritis?Ascending infection: Retained products of conception, C section, IUD.
Endometrial gland tissue outside the endometrium?Endometriosis
MC location of endometriosis?Ovaries! Usually bilateral
Chocolate cystEndometriosis in the ovaries
DyscheziaEndometriosis in the pooper (Pouch of Douglas)
Treatment of EndometriosisNSAIDs, OCP's, Progestins, Continuous GnRH
Is there a cancer risk with EndOmetriosis?YES! Carcinoma, especially Ovarian.
Cyclic pelvic pain and pain with defecationendometriosis
MC benign endometrial growth?Leiomyoma (aka fibroids)
Well-defined White Whorled massesLeiomyoma!!
Age group at risk for Leiomyoma20-40 y.o. aa.
Usually asymptomatic?Leiomyoma
Treatment for Leiomyoma?Hysterectomy
Cyclic pelvic pain +/- bowel or bladder symptoms?Endometriosis
Menorrhagia + nontender irregular uterus?Leiomyoma aka Fibroids
Memorrhagia + Tender, enlarged, globular uterusAdenomyosis
Endometrium in the myometrium?Adenomyosis


Question Answer
hormonal abnormalities in PCOSincreased LH: FSH ratio
treatment of PCOSweight reduction, OCPS
string of pearls arrangementPCOS
risk factors for ovarian canceradvanced age, infertility, endometriosis, PCOS, HNPCC, BRCA gene
protective factors against ovarian cancerprevious pregnancy, history of breast feeding OCPS
how to monitor ovarian cancerCA 125 levels
MC group of ovarian cancer?Surface epithelial tumors
Surface epithelial tumorsCystadenoma (Serous and Mucinous), Cystadenocarcinomas (Serous and Mucinous), Endometrioid, Brenner's
Are germ cell tumors typically bilateral or unilateral?Bilateral
Which age group is affected in Epithelial tumors?40-60's
Which surface epithelial tumors are benign?Cystadenoma (Serous and Mucinous), Brenner
Which surface epithelial tumors are malignant?Cystadenocarcinoma (Serous and Mucinous), Endometrioid, Clear cell
Prognosis for surface epithelial tumors?Poor
MC ovarian cancer?Serous Cystadenoma/Cystadenocarcinoma
pseudomyxoma peritoneimucinous cystadenocarcinoma mucous collects in intraperitoneum can be appendiceal


Question Answer
Sex cord tumorsGranulosa cell, Sertoli-Leydig, Fibroma, Thecoma
Prognosis of Sex-cord stromal tumors?Good! Tend to be found early
Ovarian tumor+Ascites+HydrothoraxMeig's syndrome: Fibroma
Meig's syndromeFibroma (benign)
Pleural effusion
Spindle shaped fibroblast bundlesFibroma (benign)
Precocious pubertyGranulosa cell tumor
Follicle-looking rosettes?Call-exner bodies: Granulosa cell tumor
Estrogen secretingGranulosa cell
- increased risk for Endometrial Carcinoma (Also Endometrioid)
Virilization (Hirsutism, Acne)Sertoli-Leydig
Estrogen secretingGranulosa and Thecoma
Reinke Crystals: Leydig tumor
Fibroma: spindle shaped fibroblasts
Call Exner bodies: Granulosa cell [Call your Grandma]


Question Answer
Germ cell tumorsCystic teratoma, Dysgerminoma, Yolk sac (endodermal sinus), Choriocarcinoma
What age group is affected with germ cell tumors?Teens to 20's
Germ cell tumors: unilateral or bilateral?Unilateral
Benign germ cell tumor?Mature teratoma
Malignant germ cell tumor?Immature teratoma, Dysgerminoma, Yolk sac, Choriocarcinoma
Prognosis of Germ cell tumorsExcellent response to chemo
Hyperthyroidism + ovarian massStruma ovarii: teratoma has functional thyroid tissue in a mature teratoma (benign)
Associated with Turner syndromeDysgerminoma
MC in adolescentsDysgerminoma
Fried egg cellsDysgerminoma
Tumor markers for Dysgerminoma?LDH
Cytotrophoblasts, syncytiotrophoblasts (without chorionic villi)Choriocarcinoma
Worst prognosisChoriocarcinoma: Hematogenous spread to the lungs
High B-hCGChoriocarcinoma
Embryonal carcinoma
MC in childrenYolk sac (endodermal sinus)
Glomeruloid bodiesSchiller-Duval bodies: Yolk sac tumor
AFPYolk Sac tumor
Schiller-Duval bodies: Yolk sac tumor (aggressive)
Dysgerminoma: fried egg


Question Answer
Bloody nipple dischargeIntraductal papilloma or Papillary carinoma
Phyllodes tumor:
- Fibrous overgrowth with leaf-like projections
Rubbery, mobile mass with sharp edgesFibroadenoma
Purulent nipple dischargeAcute mastitis from fissures. Most commonly staph aureus
Green/brown nipple dischargeMammary duct ectasia
Lumpy breastFibrocystic change
Fluctuates with menstrual cycleFibrocystic change
Cysts or fibrosis that expand lobules and may cause painFibrocystic change
Changes that can occur with fibrocystic change?No risk: fibrosis, cystic, apocrine
2x Risk: Sclerosing adenosis
5x Risk: Atypical Hyperplasia
Nonlactational mastitis?Duct ectasia, fat necrosis, granulomatous mastitis (from TB or ruptured silicone implants), and inflammatory carcinoma
Trauma/injury to the breastFat necrosis
Abnormal calcification and soponofication on mammographyFat necrosis
Risks for malignant breast cancer?female gender, estrogen exposure, early menarche and late menopause, older age at first live birth, obesity, BRCA1 and 2 mutations, atypical hyperplasia, first degree relative with breast cancer
Dystrophic calcification on mammographyDCIS
Comedo type DCIS:
- central caseous necrosis and dystrophic calcification
Excematous patches on nipplePaget Disease. Extension of DCIS into the nipple
Paget cells: Large cells in epidermis with clear halo
- Underlying DCIS
Incidental benign findingLobular carcinoma in situ
Lack E-cadherinlobular carcinomas
Rock-hard mass with sharp marginsInvasive ductal carcinoma: Medullary
Stellate infiltrationInvasive ductal carcinoma
Dimpled skin or nipple retractionInvasive ductal carcinoma or periductal mastitis
Tubular Invasive ductal carcinoma
- Duct-like structures invading stroma
Invasive lobular carcinoma
- Single file row of cells
Carcinoma with lymphocytic infiltrate and good prognosisMedullary carcinoma (Invasive Ductal)
BRCA1 mutationsMedullary carcinoma
Dermal lymphatic invasion with peau d'orange skininflammatory carcinoma
Acute mastitis that is not responding to antibiotics?Inflammatory carcinoma
Good prognosis:medullary, mucinous, tubular, papillary, pagets
MC Breast changeFibrocystic changes
MC malignant breast cancerInvasive ductal carcinoma

Testicular cancer

Question Answer
Fried egg appearance Seminoma
MC testicular tumor Seminoma
MC Boys <3Yolk Sac (endodermal tumor)
Yellow, mucinous and aggressiveYolk Sac
Yolk sac
- Schiller Duvall bodies (primitive glomeruli)
PainfulEmbryonal Carcinoma: hemorrhagic mass
Glandular/papillary/Tubular morphologyEmbryonal Carcinoma
Teratoma in menMalignant! (but benign in kids)
Syncytiotrophoblast and cytotrophoblastsChoriocarcinoma
Hematogenous spreadChoriocarcinoma
Gynecomastia and hyperthyroidChoriocarcinoma
Older menTesticular lymphoma (metastatic, aggressive)
Leydig cell tumor: Reinke crystals
Gynecomastia in menLeydig cell tumors
High AFP- Yolk sac!
- Also teratomas
High HCG- Choriocarcinoma!
- Embryonal carcinoma
- Teratoma
High ALPSeminoma
Estrogen secretingSertoli cell
Testosterone secretingLeydig
increased total PSA with decreased fraction of free PSAprostatic adenocarcinoma