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zakeri M, taheri F, rezanezhadi M, zaimy M A, Abdullah A L. A Case Report of a Man with Klinefelter Syndrome Having a Healthy Neonate with Normal Karyotype. mljgoums 2021; 15 (4) :6-8
URL: http://mlj.goums.ac.ir/article-1-1325-en.html
URL: http://mlj.goums.ac.ir/article-1-1325-en.html
1- Department of biology, Islamic Azad University, Tehran Medical Branch, Tehran, Iran , taheriforough93@gmail.com@yahoo.com
2- Sharekord Branch, Islamic Azad University, Sharekord, Iran
3- Master of microbiology, Kavosh medical laboratory , research and development unit,Gorgan, Iran
4- Department of Medeical Genetics, School of medicine, Tehran University of Medical Sciences, Tehran, Iran
5- General education in Baghdad, third Rusafa, Baghdad, Iraq
2- Sharekord Branch, Islamic Azad University, Sharekord, Iran
3- Master of microbiology, Kavosh medical laboratory , research and development unit,Gorgan, Iran
4- Department of Medeical Genetics, School of medicine, Tehran University of Medical Sciences, Tehran, Iran
5- General education in Baghdad, third Rusafa, Baghdad, Iraq
Abstract: (2068 Views)
Background: Klinefelter syndrome (KS) also known as 47, XXY is one of the most prevalent chromosomal abnormalities among men. Infertility is one of the most primary features of this condition. However, there are some other associated features such as thin and tall appearance, absent, delayed or incomplete puberty, small and firm testicles, small penis and gynecomastia.
Case description: We herein report a patient with mosaic KS whose karyotype consisted of 47, XXY/46, XY. The case’s wife had two miscarriages, followed by a healthy girl with a normal karyotype who was born taller than the average at the age of two.
Conclusion: Mosaic KS dramatically increases the chance of having healthy offspring with normal genetic patterns without performing artificial insemination methods compared to those with complete KS.
Case description: We herein report a patient with mosaic KS whose karyotype consisted of 47, XXY/46, XY. The case’s wife had two miscarriages, followed by a healthy girl with a normal karyotype who was born taller than the average at the age of two.
Conclusion: Mosaic KS dramatically increases the chance of having healthy offspring with normal genetic patterns without performing artificial insemination methods compared to those with complete KS.
Research Article: Brief Report |
Subject:
Microbiology
Received: 2020/07/12 | Accepted: 2020/08/15 | Published: 2021/06/30 | ePublished: 2021/06/30
Received: 2020/07/12 | Accepted: 2020/08/15 | Published: 2021/06/30 | ePublished: 2021/06/30
References
1. Skenazi B, Wyrobek A, Kidd S, Lowe X, Moore 2nd D, Weisiger K, et al. Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome. Human reproduction (Oxford, England). 2002; 17(3): 576. [View at Publisher] [DOI:10.1093/humrep/17.3.576] [PubMed] [Google Scholar]
2. Tüttelmann F, Werny F, Cooper T, Kliesch S, Simoni M, Nieschlag E. Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy. International journal of andrology. 2011;34(4):291. [View at Publisher] [DOI:10.1111/j.1365-2605.2010.01087.x] [PubMed] [Google Scholar]
3. Miki T, Nagayoshi M, Takemoto Y, Yamaguchi T, Takeda S, Watanabe S, et al. Genetic risk of Klinefelter's syndrome in assisted reproductive technology. Reproductive Medicine and Biology. 2017;16(2):188. [View at Publisher] [DOI:10.1002/rmb2.12029] [PubMed] [Google Scholar]
4. Smyth C, Bremner W. Klinefelter syndrome. Archives of internal medicine. 1998;158(12):1309. [DOI:10.1001/archinte.158.12.1309] [PubMed] [Google Scholar]
5. Dabaja AA, Schlegel PN. Microdissection testicular sperm extraction: an update. Asian journal of andrology. 2013;15(1):35. [DOI:10.1038/aja.2012.141] [PubMed] [Google Scholar]
6. Abramsky L, Chapple J. 47, XXY (Klinefelter syndrome) and 47, XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenatal diagnosis. 1997;17(4):363.
https://doi.org/10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O [DOI:10.1002/(SICI)1097-0223(199704)17:43.0.CO;2-O] [PubMed] [Google Scholar]
7. Turriff A, Macnamara E, Levy HP, Biesecker B. The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults. Journal of genetic counseling. 2017;26(4):728. [DOI:10.1007/s10897-016-0041-z] [PubMed] [Google Scholar]
8. Franik S, Hoeijmakers Y, D'Hauwers K, Braat D, Nelen W, Smeets D, et al. Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome. Human Reproduction. 2016;31(9):1952-9. [View at Publisher] [DOI:10.1093/humrep/dew179] [PubMed] [Google Scholar]
9. Lin Y, Huang W, Lin J, Kuo P. Progressive depletion of germ cells in a man with nonmosaic Klinefelter's syndrome: optimal time for sperm recovery. Urology. 2004;63(2):380. [DOI:10.1016/j.urology.2003.10.046] [PubMed] [Google Scholar]
10. Wikström A, Raivio T, Hadziselimovic F, Wikström S, Tuuri T, Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. The Journal of clinical endocrinology and metabolism. 2004; 89(5): 2263. [DOI:10.1210/jc.2003-031725]
11. Paduch D, Fine R, Bolyakov A, Kiper J. New concepts in Klinefelter syndrome. Current opinion in urology. 2008;18(6):621. [DOI:10.1097/MOU.0b013e32831367c7] [PubMed] [Google Scholar]
12. Tüttelmann F, Gromoll J. Novel genetic aspects of Klinefelter's syndrome. Molecular human reproduction. 2010;16(6):386. [DOI:10.1093/molehr/gaq019] [PubMed] [Google Scholar]
13. Wei L, Liu Y, Sun S, Tang Y, Chen S, Song G. Case report of 49, XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. Medicine. 2019;98(39). [DOI:10.1097/MD.0000000000017342] [PubMed] [Google Scholar]
14. KAPLAN H, ASPILLAGA M, SHELLEY T, GARDNER L. Possible fertility in Klinefelter's syndrome. Lancet (London, England). 1963;1(7279):506. [DOI:10.1016/S0140-6736(63)92413-9] [PubMed] [Google Scholar]
15. Lenz P, Luetjens C, Kamischke A, Kühnert B, Kennerknecht I, Nieschlag E. Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome. Human reproduction (Oxford, England). 2005;20(5):1248. [DOI:10.1093/humrep/deh745] [PubMed] [Google Scholar]
16. Fang H, Xu J, Wu H, Fan H, Zhong L. Combination of Klinefelter syndrome and acromegaly: a rare case report. Medicine. 2016;95(17. [DOI:10.1097/MD.0000000000003444] [PubMed] [Google Scholar]
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.