HỘI CHỨNG KHÔNG NHẠY CẢM ANDROGEN HOÀN TOÀN: BÁO CÁO CA BỆNH HIẾM GẶP VÀ HỒI CỨU Y VĂN

Abstract

Complete androgen insensitivity syndrome (CAIS) is a rare 46, XY disorder of sex development attributable to pathogenic variants in the X‑linked androgen receptor (AR) gene and typically presents with primary amenorrhea in individuals with a female phenotype. We describe a 21‑year‑old phenotypic female who presented with primary amenorrhea. Physical examination showed Tanner V breast development with sparse axillary and pubic hair and a blind‑ending vagina. Pelvic ultrasonography and magnetic resonance imaging demonstrated absence of the uterus and ovaries and identified two intra‑abdominal undescended testes. Cytogenetic analysis revealed a 46, XY karyotype; molecular testing detected a homozygous c.1921C>T (p.Gln641Ter) AR variant. The patient was diagnosed with CAIS with bilateral cryptorchidism and underwent laparoscopic bilateral gonadectomy, with plans for long‑term estrogen replacement and psychosocial support. This case illustrates the diagnostic pathway for primary amenorrhea with absent Müllerian structures: targeted imaging to define anatomy and localize gonads, followed by cytogenetic and molecular confirmation. It reinforces guideline‑concordant management emphasizing prophylactic gonadectomy after completion of puberty to mitigate malignancy risk, coupled with individualized lifelong hormone therapy and multidisciplinary counseling.