403.2 📚 國考版醫垫國考 / PGY OSCE

403.2.0.1 📌 Cram Sheet

403.2.0.1.1 🔥 高 yield 12
  1. 3 階段: chromosomal → gonadal (SRY) → phenotypic (hormones)
  2. 男需 testosterone + DHT + AMH; 女 = default
  3. DSD 3 類: 46,XY / 46,XX / sex chromosome
  4. CAH 21-OH = #1 46,XX DSD
  5. CAIS (AR mutation): 46,XY phenotypic female, 沒 pubic hair
  6. 5α-reductase def: 46,XY ambiguous → male puberty
  7. Turner 45,X: 短 + gonadal dysgenesis + BAV/coarc + horseshoe kidney
  8. Klinefelter 47,XXY: 高 + 小硬睟䞞 + gynecomastia + infertility
  9. Mixed gonadal dysgenesis (45,X/46,XY): gonadoblastoma risk → gonadectomy
  10. MRKH: 46,XX + 沒 uterus + 正垞 ovaries
  11. Swyer (46,XY pure gonadal dysgenesis): phenotypic female + streak gonads
  12. Newborn ambiguous: multidisciplinary + 䞍急 surgery
403.2.0.1.2 🔢 必背
Syndrome Karyotype
Turner 45,X (50%) / mosaic (50%)
Klinefelter 47,XXY
CAIS / PAIS 46,XY
Swyer 46,XY
CAH (XX) 46,XX
MRKH 46,XX
Mixed gonadal 45,X/46,XY

403.2.0.2 ⭐ 高 yield

403.2.0.2.1 Turner Syndrome Quick
  • Short stature (~ 145 cm untreated)
  • Bicuspid aortic valve (30%) + coarctation (10%)
  • Horseshoe kidney (30%)
  • Webbed neck, cubitus valgus, lymphedema
  • Hashimoto, T2DM, celiac
  • Hearing loss
  • Growth hormone + estrogen replacement
  • Lifelong cardiac + renal + thyroid + auditory
403.2.0.2.2 Klinefelter Quick
  • 1/500-1000 male births
  • Tall, eunuchoid proportions
  • Small firm testes
  • Gynecomastia 50%
  • Azoospermia (TESE+ICSI for fertility)
  • Testosterone replacement
  • Breast cancer + autoimmune risk
403.2.0.2.3 CAIS Quick
  • 46,XY, AR mutation
  • Phenotypic female + breast dev + tall + female identity typical
  • No pubic/axillary hair
  • Primary amenorrhea (no uterus)
  • Intra-abdominal testes → gonadectomy after puberty
  • Estrogen replacement
403.2.0.2.4 CAH 21-OH Quick
  • 46,XX virilization at birth (clitoromegaly, labial fusion)
  • 46,XY normal genitalia + salt-wasting in classic
  • 17-OH-progesterone ↑↑
  • HC + fludrocortisone
403.2.0.2.5 Swyer Syndrome Quick
  • 46,XY, SRY/SOX9 mutation
  • Phenotypic female + streak gonads + MÃŒllerian structures present
  • Primary amenorrhea + no breast development
  • Risk: gonadoblastoma → gonadectomy

403.2.0.3 🎯 自我檢枬

  1. SRY function? → Y → testis determination
  2. Female default? → No testosterone, no AMH
  3. CAIS karyotype? → 46,XY
  4. CAIS phenotype? → Female, no pubic hair
  5. 5α-reductase def phenotype? → 46,XY ambiguous → male puberty
  6. Turner karyotype? → 45,X (or mosaic)
  7. Turner cardiac? → BAV + coarctation
  8. Klinefelter karyotype? → 47,XXY
  9. Klinefelter testosterone? → Low
  10. CAH 46,XX appearance? → Clitoromegaly + labial fusion
  11. MRKH? → 46,XX + no uterus + normal ovaries
  12. Swyer? → 46,XY pure gonadal dysgenesis
  13. Mixed gonadal dysgenesis? → 45,X/46,XY mosaic
  14. Newborn ambiguous: 1st step? → Multidisciplinary, no rush
  15. Turner growth hormone? → Yes (improves height)

⚠ AI 草皿。