A Novel ADRA1A Missence Variant (c.939G > T) in Two Related Patients with Anejaculation: Case Report

两例无射精症患者携带一种新的ADRA1A错义变异(c.939G>T):病例报告

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Abstract

Disorders affecting ejaculation is only one of the many factors which may contribute to the pathogenesis of infertility. The genetic etiopathogenesis underlying anejaculation is not clear. It is important to elucidate the genetic etiology of anejaculation with respect to treatment options and genetic counseling. Herein we report two cases presenting anejaculation with familial ADRA1A missense variants. To our knowledge, this is the first report in the literature. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-024-01210-2.

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