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https://hdl.handle.net/11499/6134
Title: | Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype | Authors: | Bağcı, Gülseren Bisgin, A. Karauzum, S.B. Trak, B. Luleci, G. |
Keywords: | gonadal dysgenesis SRY gene Swyer syndrome amenorrhea article case report chromosome analysis female human karyotype mosaicism phenotype priority journal |
Publisher: | Elsevier Inc. | 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. | URI: | https://hdl.handle.net/11499/6134 https://doi.org/10.1016/j.fertnstert.2010.11.034 |
ISSN: | 0015-0282 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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