Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype

Abstract

Objective: To present a familial case of Swyer syndrome. Design: Case report. Setting: Academic medical center. Patient(s): Two sisters with a main complaint of primary amenorrhea and another case, their mother's maternal aunt with the same history of primary amenorrhea but married with no consanguinity and no children. Intervention(s): None. Main Outcome Measure(s): The patients were studied from clinical, endocrinologic, and genetic perspectives. Result(s): Chromosome analyses revealed a 46,XY male karyotype with no detectable mosaicism in both sisters and their mother's maternal aunt. Molecular studies of sex-determining region Y and molecular investigation undertaken for the two sisters revealed SRY negativity. Conclusion(s): Gonadal dysgenesis can also be inherited as an X-linked disorder, and evidence exists from familial studies of perhaps autosomal inheritance. Copyright © 2011 American Society for Reproductive Medicine, Published by Elsevier Inc.