An Iranian Adolescent with Disorders of Sex Development: A Case Report of 46,XX Male Disorder and Literature Review

The 46,XX male disorder of sexual development is a rare condition, occurring in approximately one in 20,000 live male births.Clinical manifestations can include testicular atrophy, azoospermia, gynecomastia, short stature, cryptorchidism, hypospadias, and micropenis.We present the case of a 13-year-old Iranian boy referred for delayed puberty.Physical examination revealed small testes and micropenis, corresponding to a Tanner stage of G1 for genitalia and P3-4 for pubic hair.Laboratory tests indicated hypergonadotropic hypogonadism, and karyotyping confirmed a 46,XX karyotype.The patient was started on testosterone enanthate at a dosage of 300 mg every three weeks.Additionally, long-term psychological support and regular gonadal monitoring were incorporated into the management plan