A novel <i><scp>NR</scp>5<scp>A</scp>1</i> variant in an infant with elevated testosterone from an <scp>A</scp>ustralasian cohort of 46,<scp>XY</scp> patients with disorders of sex development

Abstract excerpt

BACKGROUND: NR5A1 loss-of-function mutations are increasingly found to be the cause of 46,XY disorders of sex development (DSD). OBJECTIVE: To determine the presence of NR5A1 mutations in an Australasian cohort of 17 46,XY DSD patients with presumed androgen insensitivity syndrome (AIS) who were negative for androgen receptor gene (AR) mutation. DESIGN: Exons 2-7 of NR5A1 were PCR amplified and sequenced. Gene...

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