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

TL;DR

This paper reports two cases of Waardenburg syndrome with SOX10 mutations and hypogonadism, highlighting the importance of early auditory intervention and hormone therapy.

Contribution

The paper presents two genetically confirmed cases linking SOX10 mutations to hypogonadism in Waardenburg syndrome.

Findings

Early auditory intervention preserved age-appropriate language development in both patients.

Both patients showed delayed puberty due to hypogonadotropic hypogonadism, requiring gonadotropin therapy.

Multidisciplinary care and emerging therapies may improve outcomes for WS patients.

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.

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