Fertility and sterility · 2010
Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Bagci Gulseren, Bisgin Atil, Karauzum Sibel Berker, Trak Bilal, Luleci Guven
Аннотация
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.
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.