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, E(2), 17alpha-hydroxyprogesterone, 3alpha-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 counseling.