Klinefelter syndrome: Difference between revisions
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=LD50.3 Klinefelter syndrome= | |||
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! {{ICD-11}} | ! {{ICD-11}} {{ICD11weblink}}1937385304 LD50.3 Klinefelter syndrome] | ||
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:''Klinefelter syndrome defines a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype. The effects on physical features and on physical and cognitive development increase with the number of extra X's, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15-16 points, with language most affected, particularly expressive language skills.'' | :''Klinefelter syndrome defines a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype. The effects on physical features and on physical and cognitive development increase with the number of extra X's, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15-16 points, with language most affected, particularly expressive language skills.'' | ||
* {{ICD11weblink}}1472503127 LD50.30 Klinefelter syndrome with karyotype 47,XXY, regular] - ''Karyotype 47 XXY; gonads: testes (hypogonadism) small and firm with decreased spermatogenesis ; phenotype male with associated congenital abnormalities (decreased virilization due to decreased testosterone production, long arms and legs, short trunk, psychosocial problems)'' | |||
* {{ICD11weblink}}848253123 LD50.31 ''Klinefelter syndrome, male with more than two X chromosomes] - A disease affecting males, caused by the presence of more than two X chromosomes in each cell. This disease is characterized by impaired sexual development, intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. This disease may be differentiated from classic Klinefelter syndrome by increased severity of symptoms. Confirmation is through observation of more than two X chromosomes by karyotyping.'' | |||
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==Introduction== | ==Introduction== | ||
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Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Klinefelter+syndrome ''Klinefelter syndrome''] | Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Klinefelter+syndrome ''Klinefelter syndrome''] | ||
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Revision as of 14:15, 1 April 2019
Embryology - 19 Apr 2024 Expand to Translate |
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LD50.3 Klinefelter syndrome
ICD-11 LD50.3 Klinefelter syndrome |
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Introduction
Klinefelter syndrome (47,XXY, XXY syndrome or condition, XXY trisomy) affects male physical and cognitive development. The extra copy of genes on the X chromosome interferes with male sexual development and can prevent the normal function of the testis testes, reducing the levels of testosterone. The signs and symptoms vary among affected individuals.
Rare variations include 47,XXY/46,XY (mosaic syndrome) and Poly-X Klinefelter syndrome: 48,XXYY (or tetrasomy), 48,XXXY (or tetrasomy) and 49,XXXXY (or pentasomy).
First described in 1942 by Dr Harry Klinefelter.[1]
Genital System - Abnormalities
Some Recent Findings
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More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Klinefelter syndrome |
Features
Affects male physical and cognitive development. Small testes that do not produce as much testosterone as usual.
- delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility).
- Some affected individuals also have genital differences - undescended testes (cryptorchidism), (hypospadias), or an unusually small penis (micropenis).
- Children may have learning disabilities and delayed speech and language development. Tend to be quiet, sensitive, and unassertive, but personality characteristics vary among affected individuals.
- Older children and adults tend to be taller than their peers.
(Text modified from Genetics Home Reference - Klinefelter syndrome)
Diagnosis
Cytogenetics Tests
- Karyotyping
- FISH-interphase
Molecular Genetics Tests
- Detection of homozygosity
- Deletion/duplication analysis
- Targeted variant analysis
- Sequence analysis of the entire coding region
References
- ↑ Klinefelter HF. Reifenstein EC. and Albright F. Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone. (1942) J Clin Endocrinol Metab. 2:615–627.
Reviews
Articles
Search PubMed
Search Pubmed: Klinefelter syndrome
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- Genetics Home Reference Klinefelter syndrome
Glossary Links
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Cite this page: Hill, M.A. (2024, April 19) Embryology Klinefelter syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Klinefelter_syndrome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G