46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations

Leydig cell hypoplasia is a rare autosomal recessive condition caused by mutations in luteinizing hormone/chorionic gonadotropin receptor (LHCGR) genes in which 46, XY patients demonstrate a wide spectrum of disorders/differences of sex development (DSD) phenotypes ranging from normal female externa...

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Detalhes bibliográficos

Principais autores:	Kiarad Fendereski, John Carey, Kathleen Timme, Katherine Hayes, Jessica Robnett, Anthony Schaeffer
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2022-03-01
coleção:	Urology Case Reports
Assuntos:	Disorder/difference of sex development (DSD) Leydig cell hypoplasia Pseudohermaphroditism Prenatal diagnosis
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2214442021004113
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