Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1

Neurofibromatosis type 1 is one of the most common genetic autosomal dominant disorders described, with a prevalence of 1 in 2000 to 1 in 3000 individuals. It is characterized by skin, nerves, and bone abnormalities. Non-related to NF1, hypospadias is a displacement in the urethral opening which in...

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Autores principales: Perafan-Valdes, Lina, Giraldo-Ocampo, Sebastian, Lores, Juliana, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617560/
https://www.ncbi.nlm.nih.gov/pubmed/36317063
http://dx.doi.org/10.2147/PGPM.S380796
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author Perafan-Valdes, Lina
Giraldo-Ocampo, Sebastian
Lores, Juliana
Pachajoa, Harry
author_facet Perafan-Valdes, Lina
Giraldo-Ocampo, Sebastian
Lores, Juliana
Pachajoa, Harry
author_sort Perafan-Valdes, Lina
collection PubMed
description Neurofibromatosis type 1 is one of the most common genetic autosomal dominant disorders described, with a prevalence of 1 in 2000 to 1 in 3000 individuals. It is characterized by skin, nerves, and bone abnormalities. Non-related to NF1, hypospadias is a displacement in the urethral opening which in the majority of patients has an idiopathic cause. Here, we describe a patient with neurofibromatosis type 1, hypospadias, and unilateral cryptorchidism. The heterozygous variants c.6789_6792delTTAC, p.(Tyr2264Thrfs*5) and c.140A>G, p.(Tyr47Cys) were found in the NF1 and NR5A1 genes, respectively. This case contributes to the phenotypical characterization of patients with NF1 but also with hypospadias caused by a mutation in the NR5A1 gene, which usually leads to severe sex disorders.
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spelling pubmed-96175602022-10-30 Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1 Perafan-Valdes, Lina Giraldo-Ocampo, Sebastian Lores, Juliana Pachajoa, Harry Pharmgenomics Pers Med Case Report Neurofibromatosis type 1 is one of the most common genetic autosomal dominant disorders described, with a prevalence of 1 in 2000 to 1 in 3000 individuals. It is characterized by skin, nerves, and bone abnormalities. Non-related to NF1, hypospadias is a displacement in the urethral opening which in the majority of patients has an idiopathic cause. Here, we describe a patient with neurofibromatosis type 1, hypospadias, and unilateral cryptorchidism. The heterozygous variants c.6789_6792delTTAC, p.(Tyr2264Thrfs*5) and c.140A>G, p.(Tyr47Cys) were found in the NF1 and NR5A1 genes, respectively. This case contributes to the phenotypical characterization of patients with NF1 but also with hypospadias caused by a mutation in the NR5A1 gene, which usually leads to severe sex disorders. Dove 2022-10-25 /pmc/articles/PMC9617560/ /pubmed/36317063 http://dx.doi.org/10.2147/PGPM.S380796 Text en © 2022 Perafan-Valdes et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Case Report
Perafan-Valdes, Lina
Giraldo-Ocampo, Sebastian
Lores, Juliana
Pachajoa, Harry
Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1
title Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1
title_full Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1
title_fullStr Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1
title_full_unstemmed Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1
title_short Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1
title_sort neurofibromatosis type 1 and hypospadias in a male 46, xy with a mutation in the nf1 gene and a mutation in nr5a1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617560/
https://www.ncbi.nlm.nih.gov/pubmed/36317063
http://dx.doi.org/10.2147/PGPM.S380796
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