Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome

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To determine the genetic cause of primary amenorrhea in a 46,XY woman. Case report. Centre of Gynecological Endocrinology and Cytogenetics and Molecular Genetics Laboratory of university medical school. A 19-year-old woman referred for primary amenorrhea. Clinical, endocrinologic, and ultrasonographic investigation and SRY mutation analysis. Hormone profile (LH, FSH, PRL, leptin, E(2), 17alpha-hydroxyprogesterone, 3alpha-androstanediol glucuronide), ultrasonographic evaluation, clinical follow-up. A new SRY sporadic mutation due to a single nucleotide insertion at codon 13 position 38 (38-39insA) was found in a 46,XY woman with sex reversal. This mutation determined a frameshift of the reading frame sequence and a protein truncation at codon 16. Clinical and endocrinologic data are reported. This is a new rare case of a single nucleotide insertion affecting the SRY gene in 46,XY females with sex reversal. This new mutation should be considered in genetic counseling.