Klinefelter Syndrome
Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypo...
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Turkiye Klinikleri
2013-09-01
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Series: | Turkish Journal of Endocrinology and Metabolism |
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Online Access: | http://www.turkjem.org/eng/makale/835/82/Full-Text |
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doaj-7120741f3c614af1aa5b955bac94a6142020-11-24T21:28:35ZengTurkiye KlinikleriTurkish Journal of Endocrinology and Metabolism1301-21932013-09-01173636710.4274/Tjem.2189Klinefelter SyndromeHande PeynirciErdinç ErtürkKlinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7http://www.turkjem.org/eng/makale/835/82/Full-TextKlinefelter syndromesex chromosomehypogonadismtestosterone |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hande Peynirci Erdinç Ertürk |
spellingShingle |
Hande Peynirci Erdinç Ertürk Klinefelter Syndrome Turkish Journal of Endocrinology and Metabolism Klinefelter syndrome sex chromosome hypogonadism testosterone |
author_facet |
Hande Peynirci Erdinç Ertürk |
author_sort |
Hande Peynirci |
title |
Klinefelter Syndrome |
title_short |
Klinefelter Syndrome |
title_full |
Klinefelter Syndrome |
title_fullStr |
Klinefelter Syndrome |
title_full_unstemmed |
Klinefelter Syndrome |
title_sort |
klinefelter syndrome |
publisher |
Turkiye Klinikleri |
series |
Turkish Journal of Endocrinology and Metabolism |
issn |
1301-2193 |
publishDate |
2013-09-01 |
description |
Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7 |
topic |
Klinefelter syndrome sex chromosome hypogonadism testosterone |
url |
http://www.turkjem.org/eng/makale/835/82/Full-Text |
work_keys_str_mv |
AT handepeynirci klinefeltersyndrome AT erdincerturk klinefeltersyndrome |
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1725969608823799808 |