48 XXXY syndrome with diabetes mellitus: A distinct clinical entity: Not just an extension of Klinefelter syndrome

ABSTRACT 48XXXY is considered a variant of Klinefelter syndrome (47XXY) manifesting with different neuropsychiatric and phenotypic findings. It is quite rare with an incidence of 1 per 50,000 male births. This is a case of a 17-year-old boy referred to endocrinology for elevated plasma glucose levels with delayed milestones, facial dysmorphism, seizure disorder, and intellectual disability. Evaluation revealed hypergonadotropic hypogonadism with a karyotype of 48XXXY and early-onset type 2 diabetes mellitus. This is the fourth reported case of 48XXXY in India. This case report discusses distinctive clinical features of 48XXXY and also the need for its early recognition to create a multidisciplinary approach for optimal care.