A Young Male with Delayed Puberty and Poor Social Skills

Abstract

ABSTRACT Klinefelter syndrome (KS) is a chromosomal disorder characterized by the presence of one or more extra X chromosomes in males, affecting physical, cognitive, and social development. This case report describes a rare mosaic variety of KS with a karyotype of 48, XXXY. We present the clinical features, diagnostic process, and management of a patient with this unique mosaic chromosomal pattern. The case highlights the importance of recognizing atypical presentations of KS and the challenges associated with the diagnosis and treatment of rare mosaic varieties.