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    Klinefelter’s syndrome and social handicaps in Southeast of Turkey
    (DergiPark, 2019) Oral D.; Şimşek S.; Türkyılmaz A.; Yücel İ.; Tekes S.; Balkan M.
    The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births In this study we aimed to evaluate the postnatally screened karyotype results in man who were referred diagnosis of Klinefelter syndrome between 1998 and 2010 in the city of Diyarbakir, Southeast Turkey.High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done males diagnosis of Klinefelter syndrome. A total of 552 cases were evaluated retrospectively.One hundred twenty out of 552 (21.74%) cases showed of Klinefelter syndrome.Genetic counseling was provided for the cases that received Klinefelter syndrome results. The rate of gonosomal chromosomal abnormalities was social problem in our region. Chromosomal analysis is strongly suggested particularly in those who suffer fertility problems © 2019 Published by International Archives of Medical Research. All rights reserved
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    A middle aged woman with mosaic turner syndrome: A case report
    (2011) Simsek S.; Yalinkaya A.; Oral D.; Turkyilmaz A.; Tekes S.; Budak T.
    Turner syndrome is a disorder of females is characterized by the absence of all or part of a normal second sex chromosome. Turner syndrome occurs in 1 in 4000 live-born girls and approximately 5 to 10 percent of them have mosaic isochromosome 45,X/46,X,i(Xq). Turner syndrome is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Osteoporosis and high risk of fractures are features in adults with Turner syndrome. In this study, we present a delayed case of Turner syndrome with primary amenorrhea, short stature, osteoporosis and high risk of fractures. This case has ignored due to social and economic conditions, therefore we think that the patient can be considered for publication.
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    Seroprevalence of serum HBSAg positivity and hepatitis delta virus infection among blood donors in Southeastern Turkey
    (2014) Mese S.; Nergiz S.; Tekes S.; Gul K.
    Aims. HBV and HDV infection is still a serious health problem in Southeastern Turkey. In this study, we aim to investigate the prevalence serum HBsAg along with HDV infection among volunteer blood donors. Materials and Methods. This single centre and prospective study was performed in 6200 consecutive volunteer blood donors admitted to the Central Blood Bank of Dicle University Hospital. All adult blood donors included males and females were screened for HBsAg positivity. The positive serum samples for HBsAg were assessed for total anti-delta antibodies using the micro-ELISA method. Serum samples of anti-delta antibody positive cases were then examined for the presence of serum HDV RNA by real time, reverse transcription PCR method. Results. Six thousand two hundred adult volunteer blood donors were enrolled to the study. Of all analyzed blood donors, 6004 (96.8%) were men and 196 (3.2%) were women. Serum HBsAg positivity was found in 3% (186/6200) of 6200 blood donors. The mean age and female/ male ratio of HBsAg positive cases (n=186) were 32.85±10.04 years and 12/174, respectively. Serum anti-delta antibodies were detected in 6.98% (13/186) of HBsAg positive cases. The mean age of anti-delta antibody positive cases (n=13) was 44.5±13.61 years and female/ male ratio was 1/12. Moreover, 2 cases, (15.39%, 2/13) that were positive for anti-delta antibody, had serum HDV RNA positivity. Conclusions. It would be appropriate for HBsAg positive volunteer blood donors to be assessed regarding concurrent HDV infection as well. The magnitude of the contribution and benefi t that this screening would provide to our region, which is endemic for HDV infection, is the early diagnosis and management of this devastating disease. The real viremia in these cases can be best shown by using sensitive real time PCR method for the presence of serum HDV RNA. © Società Editrice Universo (SEU).