Please use this identifier to cite or link to this item: 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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