A 17-year-old girl presents with primary amenorrhea, normal breast development (Tanner V), absent pubic and axillary hair, and an absent uterus on pelvic USG. Karyotype is 46, XY. Which is the MOST appropriate counseling priority?
- A Gonadectomy after completion of puberty; hormone replacement therapy; sensitive counseling about identity ✓
- B Immediate gonadectomy to prevent malignancy; inform about infertility
- C Exogenous testosterone therapy after gonadectomy
- D Progesterone supplementation to induce withdrawal bleed
Explanation
Complete androgen insensitivity syndrome (CAIS; 46,XY with defective androgen receptor) presents with primary amenorrhea, normal female external genitalia, absent uterus/upper vagina (Mullerian structures absent due to normal AMH from testes), absent pubic/axillary hair (no androgen action), and normal/enhanced breast development (estrogen from aromatization of testosterone). Gonads (testes) are in the abdomen or inguinal canal and carry a risk of germ cell malignancy (~2–3% lifetime risk, mainly in post-pubertal period). Current guidelines recommend delaying gonadectomy until after puberty is complete (the testes provide estrogen for normal breast/bone development during puberty), followed by estrogen replacement post-gonadectomy. Sensitive, respectful counseling regarding chromosomal sex, fertility, and gender identity is paramount. Testosterone is not given post-gonadectomy; estrogen replacement is used. Progesterone has no role without a uterus.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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