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Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion.

Yi chuan = Hereditas - 20 Dec 2022

Wang Si-Qi, Chen Yang, Luo Kuan-Hong, Shi Ning-Jie, Xiao Kang-Li, Cui Zhen-Hai, Zeng Tian-Shu, Li Hui-Qing

Abstract excerpt

Hypogonadotropic hypogonadism (HH) is a disease defined by dysfunction of the hypothalamic- pituitary-gonadal hormone axis, leading to low sex hormone levels and impaired fertility. HH with anosmia or hyposmia is known as Kallmann syndrome (KS). Waardenburg syndrome (WS) is a rare autosomal dominant genetic disorder characterized by sensorineural hearing loss and abnormal pigmentation. In this report, we...

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PMID: 36927561
DOI: 10.16288/j.yczz.22-161

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