Novel Mutation of NR5A1 in A Case of 46,XY Disorder of Sexual Development: A Case Report Case

46,XY disorder of sexual differentiation (DSD) is a type of sexual ambiguity which a patient with male chromosome does not completely developed male sex phenotype. Although the condition is known as androgen insensitivity syndrome, its pathophysiology is not always such unresponsiveness to androgen. Defective androgen production caused by molecular pathology on steroidogenic hormone regulating genes explain the phenotypes in a number of cases. Herein, we report a case of 46,XY DSD with gonadal dysgenesis who had a heterozygous germline mutation of NR5A1 at the position 9:124500710. The mutation is predicted to result in a substitution of Arginine with Cysteine at the codon 84 (p.R84C) of NR5A1, which encodes for a DNA binding domain of the transcription factor SF1. On familial study, the mutation was found derived from the maternal side who also carried a heterozygous p.R84C. With this novel mutation, our evidence was consistent with previous studies which have suggested that mutations within NR5A1 are associated with 46,XY DSD and primary ovarian insufficiency.

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