 Klinefelter Syndrome
"Klinefelter Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
| Descriptor ID |
D007713
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| MeSH Number(s) |
C12.706.316.795.500 C13.351.875.253.795.500 C16.131.260.830.835.500 C16.131.939.316.795.500 C16.320.180.830.835.500 C19.391.119.795.500 C19.391.482.629
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| Concept/Terms |
Klinefelter Syndrome- Klinefelter Syndrome
- Klinefelter Syndromes
- Syndrome, Klinefelter
- Syndromes, Klinefelter
- XXY Syndrome
- Syndrome, XXY
- Syndromes, XXY
- XXY Syndromes
- Klinefelter's Syndrome
- Klinefelters Syndrome
- Syndrome, Klinefelter's
Klinefelter Syndrome, Variants- Klinefelter Syndrome, Variants
- Klinefelter Syndromes, Variants
- Syndrome, Variants Klinefelter
- Syndromes, Variants Klinefelter
48,XXYY Syndrome- 48,XXYY Syndrome
- Syndrome, 48,XXYY
- Xxyy Syndrome
- Syndrome, Xxyy
- Syndromes, Xxyy
- Xxyy Syndromes
XXY Trisomy- XXY Trisomy
- Trisomies, XXY
- Trisomy, XXY
- XXY Trisomies
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Below are MeSH descriptors whose meaning is more general than "Klinefelter Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Klinefelter Syndrome".
This graph shows the total number of publications written about "Klinefelter Syndrome" by people in this website by year, and whether "Klinefelter Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 1 | 1 | 2 | | 2013 | 2 | 1 | 3 | | 2014 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 |
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Below are the most recent publications written about "Klinefelter Syndrome" by people in Profiles.
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Samango-Sprouse C, Keen C, Sadeghin T, Gropman A. The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). Prenat Diagn. 2017 May; 37(5):497-501.
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Samango-Sprouse CA, Stapleton EJ, Mitchell FL, Sadeghin T, Donahue TP, Gropman AL. Expanding the phenotypic profile of boys with 47, XXY: the impact of familial learning disabilities. Am J Med Genet A. 2014 Jun; 164A(6):1464-9.
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Sprouse C, Tosi L, Stapleton E, Gropman AL, Mitchell FL, Peret R, Sadeghin T, Haskell K, Samango-Sprouse CA. Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. Am J Med Genet C Semin Med Genet. 2013 Feb 15; 163C(1):44-9.
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Samango-Sprouse CA, Gropman AL. Introduction: past, present, and future care of individuals with XXY. Am J Med Genet C Semin Med Genet. 2013 Feb 15; 163C(1):1-2.
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Samango-Sprouse CA, Sadeghin T, Mitchell FL, Dixon T, Stapleton E, Kingery M, Gropman AL. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age. Am J Med Genet A. 2013 Mar; 161A(3):501-8.
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Hofherr SE, Wiktor AE, Kipp BR, Dawson DB, Van Dyke DL. Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience. J Assist Reprod Genet. 2011 Nov; 28(11):1091-8.
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Samango-Sprouse CA, Gropman AL, Sadeghin T, Kingery M, Lutz-Armstrong M, Rogol AD. Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. Acta Paediatr. 2011 Jun; 100(6):861-5.
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Gropman AL, Rogol A, Fennoy I, Sadeghin T, Sinn S, Jameson R, Mitchell F, Clabaugh J, Lutz-Armstrong M, Samango-Sprouse CA. Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. Am J Med Genet A. 2010 Jun; 152A(6):1523-30.
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Kroner BL, Preiss LR, Ardini MA, Gaillard WD. New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. J Child Neurol. 2008 May; 23(5):531-5.
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