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Lina Perafan-Valdes,1,2 Sebastian Giraldo-Ocampo,3 Juliana Lores,2 Harry Pachajoa2,4 1Universidad Libre, Programa de Maestría en Epidemiología, Cali, Colombia; 2Fundación Valle del Lili, Genetics Division, Cali, Colombia; 3Universidad del Valle, Departamento de Microbiología, Cali, Colombia; 4Universidad Icesi, Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Cali, ColombiaCorrespondence: Harry Pachajoa, Fundación Valle del Lili, Genetics Division, Carrera 98 # 18-49, Cali, Colombia, Tel +57 5552334 ext 7653, Email hmpachajoa@icesi.edu.coAbstract: 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.Keywords: tumor predisposition syndrome, cafe-au-lait macules, external genitalia development, Colombia |
