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
Journal of Pediatric Endocrinology and Metabolism, cilt.39, sa.7, ss.711-715, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 39 Sayı: 7
- Basım Tarihi: 2026
- Doi Numarası: 10.1515/jpem-2025-0693
- Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Health Research Premium Collection (ProQuest)
- Sayfa Sayıları: ss.711-715
- Anahtar Kelimeler: FMR1 gene, gynecomastia, hypogonadism, intellectual disability, obesity syndrome, Xq27.3–q28
- Gazi Üniversitesi Adresli: Evet
Özet
Objectives: Duplications involving the Fragile X Mental Retardation 1 (FMR1) 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: A 17-year-old male presented to our clinic for obesity. He was followed by a child psychiatrist with diagnoses of autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and moderate intellectual disability. Physical examination showed morbid obesity, bilateral gynecomastia, and reduced testicular volume. Endocrine evaluation demonstrated hypergonadotropic hypogonadism. Genetic testing identified a 5.5 Mb interstitial duplication at Xq27.3–q28 involving FMR1, inherited from his mother. Conclusions: This patient represents the youngest living individual with a familial Xq27.3–q28 duplication reported to date. The syndrome resulting from FMR1 gene overdosage is characterized by combined neurodevelopmental and endocrine/metabolic abnormalities. FMR1 duplications should be considered in the differential diagnosis of pediatric patients presenting with similar clinical features.