We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1.
- Authors
Perafan-Valdes, Lina; Giraldo-Ocampo, Sebastian; Lores, Juliana; Pachajoa, Harry
- Abstract
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.
- Publication
Pharmacogenomics & Personalized Medicine, 2022, Vol 15, p873
- ISSN
1178-7066
- Publication type
Article
- DOI
10.2147/PGPM.S380796