46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review

The duplication of Xp21 can result in a rare genetic disorder characterized by various abnormalities in males, including short stature, mental retardation, muscular dystrophy, and gonadal dysplasia. These symptoms are often overlooked and misdiagnosed. Targeted gene detection should be completed to enable early diagnosis and intervention to improve prognosis. This study has enhanced clinicians' understanding of the disease.