"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.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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2002 | 0 | 1 | 1 |
2007 | 1 | 0 | 1 |
2017 | 4 | 0 | 4 |
2018 | 5 | 0 | 5 |
2019 | 2 | 0 | 2 |
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Below are the most recent publications written about "Klinefelter Syndrome" by people in Profiles.
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Respiratory distress in a patient with Klinefelter syndrome: a suspicion of COVID-19 hiding severe pulmonary embolism. Pan Afr Med J. 2020; 37(Suppl 1):13.
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Epicardial fat: the role of testosterone and lipid metabolism in a cohort of patients with Klinefelter syndrome. Metabolism. 2019 06; 95:21-26.
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Neuropsychiatric Aspects in Men with Klinefelter Syndrome. Endocr Metab Immune Disord Drug Targets. 2019; 19(2):109-115.
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Evidence of increased humoral endocrine organ-specific autoimmunity in severe and classic X-chromosome aneuploidies in comparison with 46,XY control subjects. Autoimmunity. 2018 06; 51(4):175-182.
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Long-term effect of testosterone replacement therapy on bone in hypogonadal men with Klinefelter Syndrome. Endocrine. 2018 08; 61(2):327-335.
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A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens? Ital J Pediatr. 2018 Apr 03; 44(1):43.
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Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives. Endocrine. 2018 08; 61(2):194-203.
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Endocrine and metabolic evaluation of classic Klinefelter syndrome and high-grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions? Eur J Endocrinol. 2018 Apr; 178(4):343-352.
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[Microdissection testicular sperm extraction for patients with nonmosaic Klinefelter syndrome: A report of 143 cases]. Zhonghua Nan Ke Xue. 2017 Dec; 23(12):1075-1079.
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Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. J Pediatr Endocrinol Metab. 2017 Jul 26; 30(7):797-803.