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

被引：1

作者：

Perafan-Valdes, Lina ^{[1
,2
]}

Giraldo-Ocampo, Sebastian ^{[3
]}

Lores, Juliana ^{[2
]}

Pachajoa, Harry ^{[2
,4
,5
]}

机构：

[1] Univ Libre, Programa Maestria Epidemiol, Cali, Colombia

[2] Fdn Valle Lili, Genet Div, Cali, Colombia

[3] Univ Valle, Dept Microbiol, Cali, Colombia

[4] Univ Icesi, Ctr Invest Anomalias Congenitas & Enfermedades Rar, Cali, Colombia

[5] Fdn Valle Lili, Genet Div, Carrera 98 18-49, Cali, Colombia

来源：

PHARMACOGENOMICS & PERSONALIZED MEDICINE | 2022年 / 15卷

关键词：

tumor predisposition syndrome; cafe-au-lait macules; external genitalia development; Colombia;

D O I：

10.2147/PGPM.S380796

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

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.

引用

页码：873 / 878

页数：6

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