Complete Androgen Insensitivity Syndrome in a Child Raised as Female: A Case Report of Diagnosis and Multidisciplinary Management

Abstract

Abstract.

Background Disorders of sex development (DSD) constitute a heterogeneous group of congenital conditions affecting chromosomal, gonadal, or anatomical sex differentiation. Complete Androgen Insensitivity Syndrome (CAIS), a leading cause of 46,XY DSD, results from pathogenic variants in the androgen receptor (AR) gene that abolish androgen signaling, thereby producing a female phenotype despite a 46,XY karyotype. Delayed Diagnosis carries significant clinical, psychological, and ethical implications.

Case Presentation: We describe a 9-year-7-month-old child with a 46, XY karyotype, raised female since birth, who first presented at 2 weeks of age with ambiguous genitalia. Examination showed hypertrophied labia majora, a narrow vaginal introitus, a 1 cm phallus, and bilaterally palpable gonads (left labial, right inguinal). Hormonal testing revealed markedly elevated testosterone (618.63 ng/dL) alongside prepubertal gonadotropins, indicating end-organ androgen resistance. Pelvic MRI demonstrated bilateral undescended testes and absent Müllerian structures. Genetic testing identified a pathogenic missense variant, AR c.2567G>A (p.Arg856His), confirming CAIS. Management involved a multidisciplinary approach, including parental counseling, pubertal surveillance, planned post-pubertal gonadectomy, and psychological support.

Discussion: This case highlights the value of a systematic diagnostic pathway for 46, XY DSD that integrates phenotyping, hormonal assessment, imaging, and molecular confirmation. Timely molecular Diagnosis supports appropriate gender identity guidance, optimal gonadectomy timing, and long-term hormone and malignancy surveillance planning.

Conclusions: CAIS should be suspected in 46, XY individuals with female phenotype and palpable gonads. A structured multidisciplinary evaluation is essential for Diagnosis and long-term care.