How reproductive pathology is tested on Step 1

Age, hormone effects, and tumor markers narrow the choices quickly.

Ovarian tumorsSurface epithelialSerous, mucinous; CA-125;BRCAGerm cellTeratoma, dysgerminoma, yolksac (AFP)Sex cord-stromalGranulosa (estrogen),Sertoli-Leydig, fibroma
Ovarian tumors. Mature cystic teratoma (dermoid) is the most common germ cell tumor and can cause torsion; fibroma with ascites and pleural effusion is Meigs syndrome.

Uterine and cervical disease

Bleeding patterns and estrogen exposure point to the lesion.

ConditionKey featuresClue
Leiomyoma (fibroid)Benign smooth muscle tumor; estrogen-sensitiveHeavy menses, enlarged irregular uterus; shrinks after menopause
AdenomyosisEndometrial glands in the myometriumUniformly enlarged, soft uterus; painful heavy menses
EndometriosisEndometrial tissue outside the uterusCyclic pelvic pain, dyspareunia, infertility; "chocolate" ovarian cysts
Endometrial hyperplasia and carcinomaDriven by unopposed estrogen (endometrioid type)Postmenopausal bleeding; also Lynch syndrome
Cervical dysplasia and carcinomaHPV 16 and 18; squamous cell most commonScreening with cytology and HPV testing; postcoital bleeding

Any postmenopausal bleeding needs evaluation of the endometrium.

Breast pathology

Age and the type of mass or discharge guide the diagnosis.

FibroadenomaYoung women; small, firm, mobile; grows withestrogenIntraductal papillomaBloody nipple discharge; beneath the areolaPhyllodes tumorLarge, fast-growing; leaf-like stroma; older womenInvasive ductalMost common cancer; firm, fixed massInvasive lobularE-cadherin loss; single-file cells; often bilateralInflammatoryDermal lymphatic invasion; red, swollen, peaud'orange
Breast lesions. Paget disease of the nipple (eczematous nipple) signals an underlying carcinoma. ER/PR-positive tumors respond to tamoxifen or aromatase inhibitors.

Male reproductive pathology

Testicular masses in young men are malignant until proven otherwise.

  • Testicular germ cell tumors: painless mass in a young man; cryptorchidism raises risk. Seminoma (most common, PLAP, radiosensitive), yolk sac tumor (AFP, the most common in young boys), choriocarcinoma (hCG), embryonal carcinoma. Removed by inguinal orchiectomy, not scrotal biopsy.
  • Leydig cell tumor: makes androgens or estrogen; Reinke crystals.
BPHTransition (periurethral) zoneSmooth, enlarged prostateFrequency, nocturia, weak streamDriven by DHTα1 blockers, 5α-reductase inhibitorsProstate cancerPeripheral zone (palpable on exam)Hard, nodular prostateOften silent earlyAdenocarcinoma; PSA risesOsteoblastic bone metastasesvs
BPH vs prostate cancer. BPH is not a precursor of prostate cancer.

Worked example

Link risk factors to the lesion.

functions Worked example — postmenopausal bleeding

A 62-year-old woman with obesity and type 2 diabetes, who never had children, has vaginal bleeding 10 years after menopause. What is the most likely diagnosis and the next step?

  1. Any bleeding after menopause is abnormal and needs evaluation.
  2. Obesity raises estrogen through aromatase in adipose tissue, unopposed by progesterone.
  3. Nulliparity and diabetes are additional risk factors for endometrial hyperplasia and carcinoma.
  4. The endometrium should be sampled (endometrial biopsy), often with transvaginal ultrasound.

Answer. Endometrial carcinoma (or hyperplasia); perform an endometrial biopsy.