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. All rights reserved.