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A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development

Differences of sex development (DSDs) are a spectrum of congenital clinical conditions involving the development of gonadal, chromosomal, and anatomical sex. The physical presentation provides incomplete clues because underlying etiologies may present with similar findings. We describe an 8-year-old...

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Autores principales: Yu, Yunting, Lee, Peter A, Huerta-Saenz, Lina, Allen, Natalie G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502515/
https://www.ncbi.nlm.nih.gov/pubmed/37719339
http://dx.doi.org/10.1210/jcemcr/luad103
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author Yu, Yunting
Lee, Peter A
Huerta-Saenz, Lina
Allen, Natalie G
author_facet Yu, Yunting
Lee, Peter A
Huerta-Saenz, Lina
Allen, Natalie G
author_sort Yu, Yunting
collection PubMed
description Differences of sex development (DSDs) are a spectrum of congenital clinical conditions involving the development of gonadal, chromosomal, and anatomical sex. The physical presentation provides incomplete clues because underlying etiologies may present with similar findings. We describe an 8-year-old boy from the Dominican Republic originally diagnosed with congenital adrenal hyperplasia (CAH). He was prescribed oral hydrocortisone and fludrocortisone, with irregular adherence. During infancy, he had human chorionic gonadotropin injections to stimulate phallic growth. After migrating to the United States, medications became depleted but without adrenal crisis. Laboratory testing with high-dose adrenocorticotropin stimulation study ruled out CAH. Careful examination noted an underdeveloped bifid scrotum, bilaterally undescended testicles, a 2-cm phallus, severe penoscrotal hypospadias, and chordee. Subsequently, he had a 2-stage bilateral orchiopexy and surgical repair of penoscrotal hypospadias and chordee. Genetic testing for 46,XY DSD revealed a novel, dominant, heterozygous, likely pathogenic variant (c.102 + 1G > C) in the NR5A1 gene associated with severe phenotype of undervirilized male. This case illustrates the crucial role of molecular genetic testing for the diagnosis of 46,XY DSDs and a novel NR5A1 gene variant.
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spelling pubmed-105025152023-09-16 A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development Yu, Yunting Lee, Peter A Huerta-Saenz, Lina Allen, Natalie G JCEM Case Rep Case Report Differences of sex development (DSDs) are a spectrum of congenital clinical conditions involving the development of gonadal, chromosomal, and anatomical sex. The physical presentation provides incomplete clues because underlying etiologies may present with similar findings. We describe an 8-year-old boy from the Dominican Republic originally diagnosed with congenital adrenal hyperplasia (CAH). He was prescribed oral hydrocortisone and fludrocortisone, with irregular adherence. During infancy, he had human chorionic gonadotropin injections to stimulate phallic growth. After migrating to the United States, medications became depleted but without adrenal crisis. Laboratory testing with high-dose adrenocorticotropin stimulation study ruled out CAH. Careful examination noted an underdeveloped bifid scrotum, bilaterally undescended testicles, a 2-cm phallus, severe penoscrotal hypospadias, and chordee. Subsequently, he had a 2-stage bilateral orchiopexy and surgical repair of penoscrotal hypospadias and chordee. Genetic testing for 46,XY DSD revealed a novel, dominant, heterozygous, likely pathogenic variant (c.102 + 1G > C) in the NR5A1 gene associated with severe phenotype of undervirilized male. This case illustrates the crucial role of molecular genetic testing for the diagnosis of 46,XY DSDs and a novel NR5A1 gene variant. Oxford University Press 2023-09-15 /pmc/articles/PMC10502515/ /pubmed/37719339 http://dx.doi.org/10.1210/jcemcr/luad103 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Yu, Yunting
Lee, Peter A
Huerta-Saenz, Lina
Allen, Natalie G
A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development
title A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development
title_full A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development
title_fullStr A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development
title_full_unstemmed A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development
title_short A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development
title_sort novel variant in nr5a1 presenting as 46,xy difference of sex development
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502515/
https://www.ncbi.nlm.nih.gov/pubmed/37719339
http://dx.doi.org/10.1210/jcemcr/luad103
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