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

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.