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.
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.