A rare case of Klinefelter syndrome diagnosed at Satara city, Maharashtra state, India.
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2019, Vol 18, Issue 3
Abstract
Klinefelter syndrome is a common genetic disorder in which there is at least one extra X chromosome (XXY), giving them a total of 47 instead of the normal 46 chromosomes associated with phenotypically males. Sex chromosome numerical abnormalities are more frequently associated with male infertility. A patient attended to our Satara based hospital with loss of secondary sexual characteristics and male infertility. Physical examination revealed thin built, gynaecomastia, hypogonadism and absence of beard / pubic hairs. Semen analysis, karyotype and relevant biochemical analysis were performed to detect chromosomal abnormality as well as hormonal level to confirm the diagnosis of Klinefelter syndrome. Chromosomal analysis of the peripheral blood lymphocytes demonstrated the constitutional karyotype of 47, XXY. Using karyotype the presence of extra X chromosome was confirmed, supporting the cytogenetic finding. The 47, XXY syndrome is relatively uncommon and can be missed clinically because of its variable clinical presentations, shyness of patients. Accurate diagnosis of this constitutional karyotype provides a valuable aid in the counselling and early management of the patients who undertake fertility evaluation.
Authors and Affiliations
Dr. Sainath G. Joshi, Dr. Bhushan M. Warpe, Dr. Shweta Joshi- Warpe
Keywords
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- EP ID EP554778
- DOI 10.9790/0853-1803056163.
- Views 82
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