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

Aarya J. Kshirsagar; Rahul R. Jahagirdar; Ruma M. Deshpande

doi:10.18203/2349-3291.ijcp20261553

Authors

Aarya J. Kshirsagar Department of Paediatrics, Bharati Vidyapeeth (deemed to be) University, Pune, Maharashtra, India
Rahul R. Jahagirdar Department of Paediatrics, Bharati Vidyapeeth (deemed to be) University, Pune, Maharashtra, India https://orcid.org/0000-0003-3357-4222
Ruma M. Deshpande Department of Paediatrics, Bharati Vidyapeeth (deemed to be) University, Pune, Maharashtra, India https://orcid.org/0000-0002-3371-7767

DOI:

https://doi.org/10.18203/2349-3291.ijcp20261553

Keywords:

Witteveen-Kolk syndrome, Hypogonadotropic, Hypogonadism

Abstract

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.

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