Gonadal Tissue Cryopreservation for a Girl with Complete Androgen Insensitivity Syndrome

Complete androgen insensitivity syndrome (CAIS) is a disorder of sex development characterized by a female phenotype in 46,XY individuals. Given the increased risk of testicular tumors, prophylactic bilateral orchiectomy is offered to patients with CAIS. While CAIS has traditionally been associated with infertility, recent evidence demonstrating the presence of germ cells in the testes of affected individuals raises the possibility of fertility preservation at the time of gonadectomy.

We present a case of gonadal tissue cryopreservation (GTC) following orchiectomy in a 16-year-old patient with CAIS. Half of each testis was sent for GTC, and the remaining tissue for histopathological examination, which revealed no definitive germ cells.

This case report discusses tumor risk, fertility potential and ethical considerations surrounding GTC in CAIS.