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.
Type of Study:
Case Report |
Subject:
Special Received: 2024/04/30 | Accepted: 2024/05/11 | Published: 2024/11/30