A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome.

doi:10.1016/j.ejogrb.2024.05.041

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Article

A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome.

European journal of obstetrics, gynecology, and reproductive biology - 1 Aug 2024

Chang Xinyue, Li Guangyu, Fu Huimin, Guan Minxin, Guo Ting

Abstract excerpt

BACKGROUND: Primary ovarian insufficiency (POI) is defined as cessation of ovarian function before the age of 40 years, which is characterized by amenorrhoea, infertility, elevated gonadotrophin level and sex-steroid deficiency. The phenotypes of POI are heterogeneous, including isolated and syndromic forms. Perrault syndrome (PS), characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction before...

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PMID: 38852317
DOI: 10.1016/j.ejogrb.2024.05.041

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