All Issues
Current Issue

.Reprint (PDF) (589 KB)

Search Pubmed for articles by:

H Simsek
A Gul
S Yentur
A Sahan

Search Google Scholar for articles by:

H Simsek
A Gul
S Yentur
A Sahan

International Research Journal of Medicine and Biomedical Sciences
Vol. 3 (1),pp. 5-9, May 2016
ISSN 2488-9032
Available online at
Author(s) retain the copyright of this article. Author(s) agree that this article remain permanently open access under the terms of the Creative Commons Attribution License 4.0 International License.

Original Research Article

A rare case of 47,XXY/46,XY mosaic klinefelter syndrome with unique phenotype

Hasan Simsek1, Abdullah Gul2*,Serhat Yentur3 and Ahmet Sahan2

1Department of Medical Genetics, The Ministry Of Health, University of Health Sciences, Diyarbakir Gazi Yasargil Research and Training Hospital, Diyarbakir, Turkey.
2Department of Urology, The Ministry Of Health, University of Health Sciences, Van Education and Research Hospital, Van, Turkey.
2Department of Urology, Medipol University, School of Medicine, Istanbul, Turkey.

*Corresponding Author Email: dr_abdullahgul(at)

date Received: January 10, 2018     date Accepted: March 12, 2018     date Published: April 28, 2018


Klinefelter syndrome (KS) is one of the most common congenital chromosomal abnormalities and one of the most common causes of infertility in men. As there are mosaic forms (eg. 47,XXY/46,XY; 47,XXY/46,XX), there are also non-mosaic forms (eg. 47,XXY; 48,XXY; 49,XXXXY; 48,XXYY) of the disease. Although the clinical findings are variable, the mosaic forms have milder phenotype than non-mosaic forms. In addition to common features, some rare findings such as Persistent Mullerian Duct Syndrome, micropenis, cryptorchidism, and hypospadias may accompany the disease. We report here a 27-year-old male 47,XXY/46,XY (80%/20% respectively) mosaic type KS patient with unusual abnormalities like scrotal hyperpigmentation and evident intellectual disability as well as known ones and discuss it in the context of the literature.

Key words: Klinefelter syndrome, mosaicism, persistent mullerian duct syndrome, scrotal hyperpigmentation

Simsek et al