A 16-year-old girl presents with primary amenorrhea, normal secondary sexual characteristics (Tanner V), blind-ending vagina, and absent uterus on pelvic ultrasound. Her karyotype is 46,XY. Serum testosterone is in the adult male range. Which is the most appropriate next step?
- A Gonadectomy followed by estrogen replacement therapy ✓
- B Oral combined contraceptive pill
- C Testosterone supplementation to promote virilization
- D Laparoscopic creation of a neovagina without gonadectomy
Explanation
This is complete androgen insensitivity syndrome (CAIS): 46,XY karyotype, absent uterus/fallopian tubes (due to anti-Müllerian hormone from testes), complete female phenotype (due to end-organ insensitivity to androgens), and elevated male-range testosterone. Intraabdominal testes carry a significant risk of malignant transformation (gonadoblastoma/dysgerminoma, risk ~2–3% by age 25, rising thereafter), so gonadectomy is recommended after puberty is complete (to allow natural estrogen production for pubertal development via aromatization). Post-gonadectomy, lifelong estrogen replacement is needed for bone health and quality of life.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.