Work

SOX10 Mutation of Waardenburg Syndrome With Hypogonadism: A Report of 2 Cases

Year: 2025

Type: article

Abstract: Waardenburg syndrome (WS) is a complex genetic disorder primarily characterized by auditory and pigmentary abnormalities, resulting from neural crest cell migration disorders. We reported 2 genetically confirmed SOX10-mutant WS cases illustrating critical management principles. Both patients underwent early auditory intervention (case 1: cochlear implantation at age 3; case 2: hearing aids from age 2), resulting in preserved age-appropriate language acquisition. Each case manifested delayed puberty with biochemical evidence of hypogonadotropic hypogonadism, necessitating gonadotropin therapy to potentiate virilization and preserve fertility. Multidisciplinary care and emerging therapeutic approaches offer hope for better management. Further studies are warranted to improve the diagnosis, treatment, and quality of life of patients with WS.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luaf339

Authors: Yuying Yang, Wei Zhang, Sichang Zheng, Yiran Jiang, Lei Ye, Shouyue Sun

Institutions: Shanghai Jiao Tong University, Ruijin Hospital, Northwest University

Language: English

Topic: Congenital Ear and Nasal Anomalies

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930