Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report

NR5A1 gene mutations are associated principally to 46,XY DSD (Disorders of Sex Development), with an extensive range of phenotypic variability in patients, comprising gonadal dysgenesis and male infertility. NR5A1 gene plays a crucial role in reproduction, steroidogenesis, and sexual differentiation...

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Autores principales:	Antonella Gambadauro, Giorgia Pepe, Celeste Casto, Angelo Tropeano, Carmelo Romeo, Malgorzata Wasniewska
Formato:	article
Lenguaje:	EN
Publicado:	Accademia Peloritana dei Pericolanti 2021
Materias:	gonadal dysgenesis nr5a1 gene dsd disorders of sex development Medicine R Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/dc8b1da367c04705be89e6d69957d740
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spelling	oai:doaj.org-article:dc8b1da367c04705be89e6d69957d7402021-11-18T08:51:21ZHeterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report1828-655010.13129/1828-6550/APMB.109.2.2021.CCS5https://doaj.org/article/dc8b1da367c04705be89e6d69957d7402021-08-01T00:00:00Zhttps://cab.unime.it/journals/index.php/APMB/article/view/3269https://doaj.org/toc/1828-6550NR5A1 gene mutations are associated principally to 46,XY DSD (Disorders of Sex Development), with an extensive range of phenotypic variability in patients, comprising gonadal dysgenesis and male infertility. NR5A1 gene plays a crucial role in reproduction, steroidogenesis, and sexual differentiation. The present case describes an Italian male adolescent with ambiguous genitalia at birth and a 46,XY karyotype who was investigated for DSD genetic panel conditions due to slow pubertal progression. A heterozygous variant in NR5A1 (NM_004959.4: c.937CT, p.Arg313Cys) was identified in this patient and in his father. The same variant was previously described in other studies showing the wide heterogeneity of genotype-phenotype correlation in DSD patients.Antonella GambadauroGiorgia PepeCeleste CastoAngelo TropeanoCarmelo RomeoMalgorzata WasniewskaAccademia Peloritana dei Pericolantiarticlegonadal dysgenesisnr5a1 genedsddisorders of sex developmentMedicineRBiology (General)QH301-705.5ENAtti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 109, Iss 2, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	gonadal dysgenesis nr5a1 gene dsd disorders of sex development Medicine R Biology (General) QH301-705.5
spellingShingle	gonadal dysgenesis nr5a1 gene dsd disorders of sex development Medicine R Biology (General) QH301-705.5 Antonella Gambadauro Giorgia Pepe Celeste Casto Angelo Tropeano Carmelo Romeo Malgorzata Wasniewska Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report
description	NR5A1 gene mutations are associated principally to 46,XY DSD (Disorders of Sex Development), with an extensive range of phenotypic variability in patients, comprising gonadal dysgenesis and male infertility. NR5A1 gene plays a crucial role in reproduction, steroidogenesis, and sexual differentiation. The present case describes an Italian male adolescent with ambiguous genitalia at birth and a 46,XY karyotype who was investigated for DSD genetic panel conditions due to slow pubertal progression. A heterozygous variant in NR5A1 (NM_004959.4: c.937CT, p.Arg313Cys) was identified in this patient and in his father. The same variant was previously described in other studies showing the wide heterogeneity of genotype-phenotype correlation in DSD patients.
format	article
author	Antonella Gambadauro Giorgia Pepe Celeste Casto Angelo Tropeano Carmelo Romeo Malgorzata Wasniewska
author_facet	Antonella Gambadauro Giorgia Pepe Celeste Casto Angelo Tropeano Carmelo Romeo Malgorzata Wasniewska
author_sort	Antonella Gambadauro
title	Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report
title_short	Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report
title_full	Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report
title_fullStr	Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report
title_full_unstemmed	Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report
title_sort	heterozygous variant in nr5a1 gene as a monogenic form of gonadal dysgenesis: a case report
publisher	Accademia Peloritana dei Pericolanti
publishDate	2021
url	https://doaj.org/article/dc8b1da367c04705be89e6d69957d740
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Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report

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