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Reproductive Pathology

Reproductive System Pathology

  1. Delayed Puberty
    • Kallman Syndrome = tall teenage male (46XY) with poorly developed secondary sex characteristics and anosmia (loss of sense of smell). Low GnRH -> low FSH, LH, and testosterone -> infertility (both males & females)
      •  due to failure of migration of olfactory & GnRH producing neurons
    • Turner Syndrome =  short female (46XO) with primary amenorrhea and premature ovarian failure (low estrogen, but high FSH & LH). May also have: webbed neck, swollen hands & feet, horseshoe kidney, coarctation of aorta/ aortic valve abnormalities. Increased risk of ovarian cancer, so remove ovaries
      • due to SHOX gene mutation --> skeletal abnormalities & short stature. No extra X means no barr body.
    • Links: 1, 2, MCC objectives 
  2. Infertility
    •  Klinefelter's syndrome = tall young man with infertility (trying to conceive for 1 year and no success), long extremities & wide hips, gynecomastia, small shrunken testes (azoospermia i.e. no sperm production), low testosterone but high FSH & LH. May also have: learning difficulties, behavioral problems.
      • due to nondisjuntion or translocation --> 47XXY, (extra X -> barr body)

  3. Ambiguous Genitalia
    • 5-alpha-reductase deficiency = genetically male (46XY) infant with ambiguous genitalia until puberty. Normal testosterone, FSH, LH.
      • due to inability to convert testosterone to dihydrotestosterone (DHT) --> disruption of external male genitalia formation (penis, scrotum, prostate gland), but normal internal genitalia (regulated by testosterone). During puberty, testosterone rapidly increases external genitalia development
    • Aromatase deficiency = genetically female (46XX) infant with ambiguous genitalia. Mother of infant will present with transient masculinization (facial hair, etc) as excess androgens cross from placenta to maternal blood.
      • due to inability to convert androgens to estrogens (occurs in placenta then later in many tissues) --> disruption of external female genitalia formation.

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