"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
- 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.
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Year | Major Topic | Minor Topic | Total |
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2002 | 0 | 1 | 1 |
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Below are the most recent publications written about "Klinefelter Syndrome" by people in Profiles.
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Nwosu BU, Hopkins TB. Newborn with klinefelter syndrome and posterior urethral valves. Urology. 2008 Nov; 72(5):1033-5.
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Hall LL, Clemson CM, Byron M, Wydner K, Lawrence JB. Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin. Hum Mol Genet. 2002 Dec 01; 11(25):3157-65.