alexa A New Female Case with 47,XXY Karyotype and SRY
ISSN: 2167-0250

Andrology-Open Access
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Case Report

A New Female Case with 47,XXY Karyotype and SRY

Hasan Acar1*, Hakan Taskapu2, M. Hamza Muslumanoglu3 and Metin Çapar4
1Department of Medical Genetics, Selçuk University, Medical Faculty, Konya, Turkey
2Department of Urology, Medical Faculty, Konya, Turkey
3Department of Molecular Biology and Genetics, Yildiz Teknik University, Istanbul, Turkey
4Department of Obstetrics and Gyeneacology Clinics, Konya, Turkey
*Corresponding Author : Hasan Acar, Ph.D
Professor of Medical Genetics
Department of Medical Genetics, Selcuk University
Medical Faculty, Alaaddin Keykubat Campus
Selcuklu, 42100, Konya, Turkey
Tel: 3322243930
E-mail: [email protected]
Rec date: March 29, 2016; Acc date: April 22, 2016; Pub date: April 29, 2016
Citation: Acar H, Taskapu H, Muslumanoglu MH, Çapar M (2016) A New Female Case with 47,XXY Karyotype and SRY. Andrology (Los Angel) 5:157. doi:10.4172/2167-0250.1000157
Copyright: © 2016 Acar H, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
 

Abstract

Objective: Numerical abnormalities of sex chromosome, 47,XXY karyotype, have the clinical phenotype of Klinefelter syndrome. Very few 47,XXY cases with a female phenotype have been reported. The testicular feminization syndrome is a female phenotype with a male karyotype (46,XY). Most of these cases have SRY positive SRY (testis-determining factor). The genetic explanation of this phenomenon is not very clear. Methods: Clinical examination, conventional cytogenetic analysis, fluorescence insitu hybridization and molecular genetic analysis polymerease chain reaction were done on a 17 year old female patient. Results: Clinical examination revealed that the case had a female external genitalia, breast development and pubic hair. Some clinical findings of the patients are unique and not similar to the other cases reported in the literature. The present case has different clinical features including normal phenotype, breast development and normal gentelia, tubes, ovaries, but hypoplastic uterus. Cytogenetic analysis and fluorescence in situ hybridization revealed that the Y chromosome was normal; both fluorescence in situ hybridization (FISH) and the polymerase chain reaction (PCR) shown the presence of SRY gene. However, PCR analysis revealed the deleted sequences of AZF region. Conclusion: This is a new distinct female case with 47,XXY in spite of the presence of a Y chromosome and the normal SRY. Undertake published cases in the literature and present case, each case should be considered as a different identity in female phenotype with 47,XXY karyotype and SRY, but the deletion of AZF region on the long arm of chromosome Y.

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