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Article

Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Frontiers in endocrinology - 1 Jan 2020

Chen Kan, Wang Haoyu, Lai Yaxin

Abstract excerpt

Introduction: Kallmann syndrome (KS) is idiopathic hypogonadotropic hypogonadism with olfactory loss or decline. Waardenburg syndrome type II (WS2) is a clinically and genetically heterogeneous disease, characterized by congenital sensorineural deafness and abnormal pigmentation of the iris, hair, and skin. Recently, mutations in the well-known WS pathogenic gene SOX10 have been found in some KS patients with...

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Identifiers

PMID: 33597923
DOI: 10.3389/fendo.2020.592831
PMCID: PMC7883637

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