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

Noorian, Shahab; Saeedi, Peyman

Volume 13, Issue 4 (Autumn 2024) aumj 2024, 13(4): 295-299 | Back to browse issues page

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Noorian S, Saeedi P. An Iranian Adolescent with Disorders of Sex Development: A Case Report of 46,XX Male Disorder and Literature Review. aumj 2024; 13 (4) :295-299
URL: http://aums.abzums.ac.ir/article-1-1809-en.html

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

Shahab Noorian¹

, Peyman Saeedi ^*²

1- Department of Pediatrics Endocrinology and Metabolisms, Emam Ali Hospital, Alborz University of Medical Sciences and Health Services, Karaj, Iran
2- Faculty of Medicine, Alborz University of Medical Sciences and Health Services, Karaj, Iran , peysaeidi@gmail.com

Abstract: (279 Views)

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.

Keywords: Case report Sexual Development Disorders, Testosterone, Puberty Disorders, Karyotype, Hypogonadism.

Full-Text [PDF 301 kb] (65 Downloads)

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