Publication:

Witteveen-Kolk syndrome with hypogonadotropic hypogonadism - a diagnostic challenge in syndromic delineation

Witteveen–Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay or intellectual disability, behavioural disorders including autism spectrum disorders, obsessive–compulsive behaviours as well as attention deficit hyperactivity disorder symptoms. It also presents with facial dimorphisms and short stature. The syndrome is caused by loss of function of switch-insensitive 3 transcription regulator family member A (SIN3A). We report a novel case of WITKOS presenting with hypogonadotropic hypogonadism along with neurological manifestation. The need of early diagnosis and anticipation of subsequent manifestations of the syndrome during childhood along with a multidisciplinary approach to treatment has been emphasized.