Work

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

Year: 2025

Type: article

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.

Source: Case Reports in Pediatrics

DOI: 10.1155/crpe/9913412

Authors: Asal Khalili Dehkordi, Rahim Vakili

Institutions: Children's Medical Center, Tehran University of Medical Sciences, Mashhad University of Medical Sciences

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $790