Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism

Abstract

To report a pediatric patient with coexisting complete androgen insensitivity syndrome (CAIS), neurofibromatosis type 1 (NF1), and 15pstk + polymorphism, and to analyze its clinical phenotypes and molecular genetic characteristics. Clinical data of a 7-year-and-11-month-old patient with female social gender were retrospectively analyzed. Pathogenic gene variants were identified by whole-exome sequencing (WES), pedigree verification was performed by Sanger sequencing, and variant pathogenicity was evaluated using bioinformatics tools. The patient exhibited typical phenotypes of both diseases, accompanied by unique features, including epicanthal folds, webbed neck, broad great toes and thumbs. WES identified a maternally inherited hemizygous missense variant in the AR gene (c.2599G > A, p.Val867Met) and a de novo heterozygous missense variant in the NF1 gene (c.5488C > T, p.Arg1830Cys). This is the first report of concurrent CAIS and NF1, which enriches and expands the genotypic and phenotypic spectra of both disorders.