A Case of Diabetes Mellitus in A Young Adult ? An Unusual Presentation - Prader Willi Syndrome

Riyas R S, Soumik Goswami, Nilanjan Sengupta, Pranab Kumar Sahana, Arjun Baidya, Arindam Roy

Abstract: Prader-Willi syndrome (PWS) is the most common syndromic cause of human obesity and is associated with multiple endocrinopathies including type 2 diabetes mellitus (T2DM). Prader?Willi syndrome (PWS) is a multisystem complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. With the rising prevalence of obesity and early onset T2DM in young adults, clinicians need to be aware of genetic syndromes associated with T2DM and obesity. We discuss a case of PWS which was diagnosed after evaluation of a male patient who presented to us with obesity and uncontrolled diabetes. Despite the presence of neurodevelopmental delay and suggestive syndromic features, the diagnosis in our patient was delayed because of lack of awareness about PWS.

Keywords: Type 2 Diabetes mellitus (T2DM), obesity, Prader-Willi syndrome (PWS), Genomic imprinting