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

Objective: To determine the genetic cause of primary amenorrhea in a 46,XY woman. Design: Case report. Setting: Centre of Gynecological Endocrinology and Cytogenetics and Molecular Genetics Laboratory of university medical school. Patient(s): A 19-year-old woman referred for primary amenorrhea. Intervention(s): Clinical, endocrinologic, and ultrasonographic investigation and SRY mutation analysis. Main Outcome Measure(s): Hormone profile (LH, FSH, PRL, leptin, E2, 17a-hydroxyprogesterone, 3a-androstanediol glucuronide), ultrasonographic evaluation, clinical follow-up. Result(s): 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. Conclusion(s): 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 counselin