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

PURPOSE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: This is the first report of concurrent CAIS and NF1, which enriches and expands the genotypic and phenotypic spectra of both disorders.