403.3 🩺 內科專科考前版

403.3.0.1 📌 䞀頁重點

  • 22E: NGS panel for DSD diagnosis; uterus transplant for MRKH (research); active surveillance vs prophylactic gonadectomy decisions; cardiac surveillance refinement for Turner; testosterone formulations for Klinefelter
  • Taiwan: 健保 GH for Turner; 健保 testosterone undecanoate; 健保 estrogen replacement; CTAOH/TES + Endocrine Society DSD guideline; multidisciplinary DSD team

403.3.0.2 🌟 Pearls (12)

  1. Chicago Consensus 2006 + Endocrine Society 2018 updates: DSD terminology + multidisciplinary care
  2. NGS panel for DSD: ≥ 70% diagnostic yield for clear cases
  3. Turner aortic dissection risk: pregnancy, hypertension, dilated aorta — surveillance MRI + echo
  4. Turner uterus: small but functional uterus possible; assisted reproductive technology
  5. Klinefelter TESE+ICSI: ~ 50% sperm retrieval; fertility preservation possible
  6. CAIS gonadectomy timing: post-puberty for natural breast development; some advocate earlier (cancer risk debate)
  7. PAIS variable phenotype: gender assignment challenging; multidisciplinary
  8. 5α-reductase deficiency: gender identity often male despite female-raised; testosterone alone for adult masculinization
  9. Aromatase deficiency: rare; 46,XX virilized + maternal virilization during pregnancy
  10. POR (P450 oxidoreductase) mutation: combined 21-OH + 17α-OH-like + aromatase defect
  11. Uterus transplant for MRKH: emerging (Sweden, US trials); successful births
  12. Mosaic Y in Turner: Y-chromosome material → gonadoblastoma risk → prophylactic gonadectomy

403.3.0.3 📍 Taiwan + 健保

403.3.0.3.1 Treatment
  • 健保 GH for Turner (somatropin) 條件 (兒童期; height-improving)
  • 健保 estrogen + progestin replacement for hypogonadism
  • 健保 testosterone (undecanoate, gel, IM) for Klinefelter + male hypogonadism
  • 健保 hydrocortisone + fludrocortisone for CAH
  • 健保 surgical reconstruction (gonadectomy, vaginoplasty, etc) 倚 醫孞䞭心
403.3.0.3.2 Lab + Genetic
  • 健保 karyotype + chromosomal microarray
  • 健保 DSD NGS panel 條件 (限制䞭心)
  • 健保 hormone panels (testosterone, DHT, AMH, estrogen, LH/FSH, 17-OH-progesterone)
403.3.0.3.3 Monitoring
  • 健保 echo + cardiac MRI (Turner)
  • 健保 renal US, thyroid panel, glucose, hearing test
  • 健保 DXA for bone density (Klinefelter, Turner, hypogonadism)
403.3.0.3.4 孞會 + 指匕
  • TES 內分泌孞會 + CTAOH
  • Endocrine Society DSD Guideline 2018
  • ATA Turner 2017
  • ESPE/ESE Klinefelter
  • 國健眲眕病登錄 (Turner, Klinefelter, CAH 等)

403.3.0.4 🎓 內專必懂 (12)

  1. 3 stages sex development + key genes/hormones
  2. DSD 3 倧分類 (Chicago 2006)
  3. Newborn ambiguous workflow: karyotype + 17-OH-prog + electrolytes + imaging + multidisciplinary team
  4. Turner: cardiac/renal/thyroid lifelong + GH + estrogen
  5. Klinefelter: testosterone + TESE+ICSI + bone + breast/autoimmune surveillance
  6. CAIS gonadectomy timing decision
  7. 5α-reductase + 17β-HSD def distinction
  8. Swyer + mixed gonadal dysgenesis + Y-chromosome cancer risk
  9. CAH classic vs non-classic + crinecerfont (22E)
  10. MRKH + uterus transplant
  11. NGS DSD panel (22E)
  12. Multidisciplinary DSD team (endocrine + urology + gyne + psych + genetic + ethics)

403.3.0.5 ⚙ Newborn Ambiguous Genitalia Workflow (內專)

Step 0 — Crisis assessment:
- Salt-wasting CAH? Check Na, K, glucose, BP
- Stress dose HC empirically if suspect

Step 1 — Multidisciplinary team:
- Endocrine, urology, genetics, psychology, ethics, neonatology
- Family meeting

Step 2 — Initial workup:
- Karyotype (FISH for X/Y faster)
- 17-OH-progesterone (CAH)
- Cortisol + ACTH
- Testosterone, DHT
- AMH (Sertoli function)
- Electrolytes (salt-wasting)
- Pelvic US (uterus, gonads)
- Genitogram (cloaca, urogenital sinus)

Step 3 — Specific testing per algorithm:
- 46,XX + virilized → CAH workup
- 46,XY + undermasculinized → AR mutation, 5α-RD, T synthesis defects
- Mosaic → karyotype follow

Step 4 — Family + child support:
- Explanation
- Time + thoughtful gender assignment (no rush)
- Surgical decisions deferred when possible
- Long-term multidisciplinary care

403.3.0.6 ⚙ Turner Syndrome Lifelong Care (內專)

Diagnosis:
- Karyotype confirmation (mosaic detection)
- FISH for Y-chromosome material (gonadoblastoma risk if Y+)

Childhood:
- GH starting age 5-6 (or younger if severe short stature)
- Goal: max adult height
- Annual: cardiac echo (BAV, coarc), renal US, thyroid TSH+anti-TPO, hearing, GH titration

Puberty:
- Estrogen replacement starting 11-12
- Cycled with progestin for endometrial protection
- Goal: secondary sexual development + bone health

Adulthood:
- Cardiac surveillance: echo + MRI annually if BAV/dilation; less if normal
- Renal US periodic
- Thyroid (Hashimoto), DM, celiac, lipid screen
- Hearing test
- Bone density (DXA)
- Reproductive: ART with donor egg or own ova (rare); pregnancy high-risk (aortic dissection)
- Lipid + cardiometabolic management

Pregnancy:
- Aortic dissection risk ↑ during pregnancy
- Pre-pregnancy MRI aorta
- Tight BP control
- Multidisciplinary

403.3.0.7 ⚙ Klinefelter Lifelong Care (內專)

Diagnosis:
- Often delayed (adulthood)
- Karyotype 47,XXY confirmation
- Testosterone deficient + FSH/LH ↑ (primary)

Adolescence/Adult:
- Testosterone replacement (multiple formulations)
  - IM: testosterone enanthate, undecanoate
  - Topical: gel, patch
  - Oral: testosterone undecanoate (capsule)
- Goal: normal masculinization, muscle mass, bone, libido, well-being

Fertility:
- TESE + ICSI: ~ 50% sperm retrieval
- Earlier intervention better (testicular health declines)
- Sperm banking pre-puberty (research)

Long-term surveillance:
- Bone density (DXA)
- Lipid + glucose + MetS
- Cardiovascular
- Breast cancer screening
- Autoimmune (RA, SLE)
- Mental health (anxiety, depression)
- Cognitive support if needed

⚠ AI 草皿。