Bilateral Congenital Anorchidism: Case Study

Embryonic testicular regression syndrome (ETRS) or congenital bilateral anorchidism (CBA) is a highly rare syndrome defined by the complete absence of testicular tissue in a patient with a male karyotype. The phenotype varies depending on when gonadal regression occurs in utero. Clinically, a micropenis, hypoplastic scrotum, empty, without perceived testicles are observed. Hormonal assessments reveal collapsed or completely absent testosterone levels and AMH (anti-Mullerian hormone) levels. Diagnosis is confirmed by laparoscopic exploration. Management relies on androgen supplementation and placement of testicular prostheses.