Recent advances in managing and understanding Klinefelter syndrome
- PMID: 30755791
- PMCID: PMC6352920
- DOI: 10.12688/f1000research.16747.1
Recent advances in managing and understanding Klinefelter syndrome
Abstract
Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management.
Keywords: 47; Klinefelter Syndrome; TESE; XXY; azoospermia; testis.
Conflict of interest statement
No competing interests were disclosed.No competing interests were disclosed.No competing interests were disclosed.
Similar articles
-
New concepts in Klinefelter syndrome.Curr Opin Urol. 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. Curr Opin Urol. 2008. PMID: 18832949 Review.
-
The natural history of endocrine function and spermatogenesis in Klinefelter syndrome: what the data show.Fertil Steril. 2012 Aug;98(2):266-73. doi: 10.1016/j.fertnstert.2012.06.024. Fertil Steril. 2012. PMID: 22846647 Review.
-
[Fertility in Klinefelter syndrome].Presse Med. 2014 Feb;43(2):162-70. doi: 10.1016/j.lpm.2013.12.002. Epub 2014 Jan 16. Presse Med. 2014. PMID: 24439539 Review. French.
-
Karyotype revealed 47, xxy chromosome (Klinefelter syndrome): a case report.Nepal Med Coll J. 2007 Sep;9(3):215-6. Nepal Med Coll J. 2007. PMID: 18092444
-
Endocrine aspects of Klinefelter syndrome.Curr Opin Endocrinol Diabetes Obes. 2019 Feb;26(1):60-65. doi: 10.1097/MED.0000000000000454. Curr Opin Endocrinol Diabetes Obes. 2019. PMID: 30507702 Review.
Cited by
-
In-vivo skeletal muscle mitochondrial function in Klinefelter syndrome.J Investig Med. 2022 Jan;70(1):104-107. doi: 10.1136/jim-2021-001966. Epub 2021 Sep 7. J Investig Med. 2022. PMID: 34493629 Free PMC article.
-
Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report.Mol Cytogenet. 2022 Sep 5;15(1):40. doi: 10.1186/s13039-022-00618-w. Mol Cytogenet. 2022. PMID: 36064723 Free PMC article.
-
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.BMC Pediatr. 2024 Apr 22;24(1):263. doi: 10.1186/s12887-024-04723-0. BMC Pediatr. 2024. PMID: 38649921 Free PMC article. Review.
-
Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence.Front Endocrinol (Lausanne). 2020 Aug 19;11:543. doi: 10.3389/fendo.2020.00543. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32973676 Free PMC article. Review.
-
Communication of the diagnosis to Klinefelter subjects: an observational study on a key moment of the patient's life.J Endocrinol Invest. 2024 Aug;47(8):2029-2039. doi: 10.1007/s40618-024-02302-9. Epub 2024 Feb 20. J Endocrinol Invest. 2024. PMID: 38376732 Free PMC article.
References
-
- KLINEFELTER HF, REIFENSTEIN EC, ALBRIGHT F: Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone. J Clin Endocrinol Metab. 1942;2(11):615–27. 10.1210/jcem-2-11-615 - DOI
-
- Rajender A, Oates RD: Evaluation and Management of Klinefelter Syndrome.AUA Updat Ser.2018;37 Reference Source
-
- Bourke E, Herlihy A, Snow P, et al. : Klinefelter syndrome - a general practice perspective. Aust Fam Physician. 2014;43(1):38–41. - PubMed
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical