From Inguinal Gonads to Estrogen Therapy: Deferred Gonadectomy and Early Outcomes in Complete Androgen Insensitivity — Case Report

Complete androgen insensitivity syndrome (CAIS) is a rare 46,XY difference of sex development caused by pathogenic variants in the androgen receptor, producing complete end-organ resistance to androgens and a female external phenotype with absent Müllerian structures. We report a 24-year-old woman born to second-degree consanguineous parents, with two similarly affected sisters, who presented with primary amenorrhea. Examination showed Tanner IV breasts, very sparse axillary and pubic hair, a short blind-ending vagina, and a painless left inguinal swelling consistent with hernia. Karyotype was 46,XY. Hormonal testing revealed testosterone 1.02 ng/mL (below adult male reference), LH 17 mIU/mL (elevated), FSH 2.10 mIU/mL, and estradiol 70.5 pmol/L; tumor markers (AFP, hCG, LDH) were normal. Pelvic imaging demonstrated absence of uterus and ovaries with gonads located in the inguinal region. The patient underwent bilateral orchiectomy with McVay repair of the left inguinal hernia, initiated estrogen replacement therapy, and performed patient-led vaginal dilation. At six months, she reported good tolerance of estrogen therapy, no pelvic pain or recurrent masses, satisfactory perineal healing without infection, comfortable sexual intercourse following a structured dilation/pelvic-floor program, and appropriate psychosocial adjustment with specialist support, without anxiety or depressive symptoms. This case underscores typical clinical, hormonal, and imaging features of CAIS within a familial context and supports delayed gonadectomy after spontaneous puberty, followed by individualized estrogen replacement and multidisciplinary follow-up to optimize bone health, sexual function, and psychosocial outcomes.