Objective: To determine the genetic cause of primary amenorrhea in a 46,XY adolescent girl.
Design: Case report.
Setting: Pediatric endocrinology and gynecologic unit of an academic hospital.
Patient(s): A 16-year-old adolescent referred for primary amenorrhea.
Intervention(s): Endocrine and surgical investigation, SRY mutational analysis.
Main outcome measure(s): Plasma gonadotropin levels, estradiol and testosterone levels, and pathologic findings.
Result(s): We report a new mutation of the SRY gene in a 46,XY sex-reversed patient. We observed two unusual features. First, partial pubertal development has rarely been described in association with SRY gene mutation. Second, the location of the mutation was in the HMG box region of the SRY gene, in contrast to the other partial cases of 46,XY gonadal dysgenesis. In addition, the presence of a gonadoblastoma underlines the necessity of removing the gonads quickly in 46,XY sex-reversal cases, and raises several questions about the role of the SRY gene in the development of such tumors.
Conclusion(s): Partial pubertal development in a 46,XY sex-reversed patient does not exclude SRY gene mutation.