Multidisciplinary management of concurrent hypogonadism, diabetes, and hypothyroidism in Woodhouse-Sakati syndrome: a case report and preliminary clinical management experience

Abstract

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine disorder caused by mutations in DCAF17. We report the case of a non-consanguineous Chinese family with two affected siblings who presented with triangular facies, sparse hair, progressive gonadal dysfunction, hypothyroidism, and diabetes mellitus. Genetic testing identified a previously reported homozygous frameshift variant in DCAF17, NM_025000.4:c.1488_1489del (NP_079276.2:p.Arg496fs) (rs778488574), which was verified by Sanger sequencing. The patients received stratified, individualized, multidisciplinary interventions, including hormone replacement and metabolic therapy as part of a 5-year standardized post-diagnosis surveillance program initiated in 2021. This report expands the phenotypic spectrum of this DCAF17 variant, highlights the necessity of early DCAF17 genetic sequencing in patients with unexplained multiple endocrine dysfunctions and characteristic ectodermal/facial features, and provides practical stratified long-term monitoring strategies that combine endocrinological and neurological surveillance for clinical reference.