Androgen insensitivity syndrome is a rare X-linked recessive androgen receptor defect seen in 1-5 of 100,000. It occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vaginal of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair. These patients have male karyotype (XY) and the gonads may be intra-abdominal, inguinal, or labial. This is a case of a 25-year old phenotypic female with primary amenorrhea, bilateral inguinal masses and a 46, XY karyotype. Following the diagnosis of complete androgen insensitivity syndrome, a multidisciplinary team, with the gynecologist as the primary physician, was formed. She underwent bilateral gonadectomy and was given continuous estrogen therapy and calcium supplementation. Pre-operative and post-operative supportive psychotherapy and continuous psychosocial support from her family and online AIS support groups played a major role in the positive adaptation of the patient. 

Human ; Androgen Insensitivity Syndrome (ais) ; Complete Androgen Insensitivity Syndrome (cais)

Androgen insensitivity syndrome is a rare X-linked recessive androgen receptor defect seen in 1-5 of 100,000. It occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and a sparse or absent pubic hair and axillary hair. These patients have male karyotype (XY) and the gonads may be intra-abdominal, inguinal, or labial. This is a case of a 25-year old phenotypic female with primary amenorrhea, bilateral inguinal masses and a 46, XY karyotype. Following the diagnosis of complete androgen insensitivity syndrome, a multidisciplinary team, with the gynecologist as the primary physician, was formed. She underwent bilateral gonadectomy and was given continuous estrogen therapy and calcium supplementation. Pre-operative and post-operative supportive psychotherapy and continuous psychosocial support from her family and online AIS support groups played a major role in the positive adaptation of the patient.

Human ; Androgen Insensitivity Syndrome (ais) ; Complete Androgen Insensitivity Syndrome (cais)