ESPE Abstracts

Introduction: Syndromic obesities are characterized by malformations, dysmorphic features, and/or neurodevelopmental disorders. This paper reports the clinical characterization of a duplication showing familial transmission in the Xq27.3q28 region containing the FMR1 gene, presenting symptoms such as obesity, hypogonadism, gynecomastia, short stature, and intellectual disability.

Case Presentation: A 17-year-old male patient, who was being followed up by child psychiatry for autism spectrum disorder, mental retardation, and attention deficit hyperactivity disorder, presented to our clinic due to obesity. It was learned that weight gain started after the age of 6, and he exhibited hyperphagia. In his medical history, he was born at term weighing 3750 grams, underwent orchiopexy at the age of 4, and had a history of first-degree consanguinity between the parents. On physical examination, his body weight was 101.5 kg (+2.45 SDS), height was 167 cm (-1.25 SDS), body mass index was 36.39 kg/m2 (+2.77 SDS), and blood pressure was measured as 130/80 mmHg. Gynecomastia and mild acanthosis nigricans were present on his neck. Pubic hair Tanner stage was 5, and testicular volumes were bilaterally 5 ml. The genetic evaluation revealed a 5.5 Mb duplication containing the FMR1 gene in the Xq27.3q28 region.

Conclusion: The duplication in the Xq27.3-q28 region leads to obesity, hypogonadism, gynecomastia, short stature, and intellectual disability. This phenotype has been reported in other cases with similar clinical features. Duplications of different sizes and locations may affect clinical symptoms in different ways. The duplication in the Xq27.3-q28 region containing the FMR1 gene suggests a newly identified syndrome with familial transmission. As the number of reported cases increases, the clinical features of this syndrome will be better understood.

Keywords: FMR1, Gynecomastia, Obesity, Xq27.3-q28