XY Gonadal Dysgenesis in an Adolescent with Chronic Renal Failure: a Case of Frasier Syndrome

Study Objective: To report a case of XY gonadal dysgenesis in an adolescent with renal failure and to review the literature on this association.

Methods: In this case report from the Tertiary Care University Medical Center, a 16-year-old female with chronic renal failure presenting with primary amenorrhea was studied. Interventions included laparotomy with bilateral gonadectomy and hormone replacement therapy.

Main Outcome Measures: Karyotype, gonadal histology.

Results: Diagnosis of gonadal dysgenesis. Presence of a gonadoblastoma.

Conclusions: Gonadal dysgenesis should be considered in any female adolescent with renal disease presenting with pubertal delay or primary amenorrhea.