DCAF17 Mutation in Woodhouse-Sakati Syndrome: A Case Report on a Novel Homozygous Variant.

Abstract

Background: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by a constellation of symptoms, including alopecia, hypogonadism, diabetes, mental retardation, and extrapyramidal syndrome. Here, we present a case study of a girl with WSS, focusing on clinical features, genetic analysis, and treatment. Case Description: The patient is a 16-year-old female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics. She has first-degree consanguineous parents. Clinical evaluations, laboratory tests, whole-exome sequencing, and karyotyping were performed to diagnose WSS. The patient exhibited notable frontotemporal alopecia, hypogonadism, and intellectual decline. Genetic analysis revealed a homozygous mutation (c.1001 + 1G > A) in the DCAF17 gene, a known causative gene of WSS. In addition to hormone therapy to induce puberty, the patient was referred to neurology for further evaluation. Conclusions: This case highlights the importance of considering WSS in patients with alopecia, hypogonadism, and consanguineous backgrounds. Genetic testing plays a crucial role in diagnosis, while hormone therapy may alleviate some symptoms. WSS is a complex syndrome with varied clinical manifestations, necessitating multidisciplinary treatment. Early recognition and effective management are essential for improving the quality of life of affected individuals.