Xq27.3–q28 duplication involving the FMR1 gene presenting with familial X-linked hypogonadism, gynecomastia, short stature, intellectual disability, and obesity syndrome: a case report and review of the literature

OBJECTIVES: ) gene at Xq27.3-q28 underlie a rare but clinically distinctive genetic syndrome. This report aims to describe the clinical features of a pediatric male patient presenting with morbid obesity, hypogonadism, gynecomastia, short stature, and neurodevelopmental disorders, and to compare the findings with previously reported cases. CASE PRESENTATION: , inherited from his mother. CONCLUSIONS: duplications should be considered in the differential diagnosis of pediatric patients presenting with similar clinical features.