| Descriptor English: | Klinefelter Syndrome | ||||
| Descriptor Spanish: |
Síndrome de Klinefelter
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| Descriptor Portuguese: | Síndrome de Klinefelter | ||||
| Descriptor French: | Syndrome de Klinefelter | ||||
| Entry term(s): |
48,XXYY Syndrome 49,XXXXY Syndrome Klinefelter Syndrome, Variants Klinefelter Syndromes Klinefelter Syndromes, Variants Klinefelter's Syndrome Klinefelters Syndrome Syndrome, Klinefelter Syndrome, Klinefelter's Syndrome, Variants Klinefelter Syndrome, XXY Syndrome, Xxyy Syndromes, Klinefelter Syndromes, Variants Klinefelter Syndromes, XXY Syndromes, Xxyy Trisomies, XXY Trisomy, XXY XXXY Male XXXY Males XXY Syndrome XXY Syndromes XXY Trisomies XXY Trisomy Xxyy Syndrome Xxyy Syndromes |
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| Tree number(s): |
C12.050.351.875.253.795.500 C12.200.706.316.795.500 C12.800.316.795.500 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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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D007713 | ||||
| Scope note: | 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.). |
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| Annotation: | index here karyotypes XXXY, XXXXY, XXYY, XXXYY, XX/XXY, XX/YY, XY/XXY, XXY/XXXY, XXY/XXYY, XY/XXY/XXXY if called KLINEFELTER SYNDROME by author but if not so named by author, index under SEX CHROMOSOME DISORDERS |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| DeCS ID: | 7889 | ||||
| Unique ID: | D007713 | ||||
| NLM Classification: | QS 677 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 1966/01/01 | ||||
| Date of Entry: | 1999/01/01 | ||||
| Revision Date: | 2016/06/28 |
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Klinefelter Syndrome
- Preferred
Klinefelter Syndrome, Variants
- Narrower
48,XXYY Syndrome
- Narrower
XXY Trisomy
- Narrower
49,XXXXY Syndrome
- Narrower
XXXY Males
- Narrower
| Concept UI |
M0012062 |
| Scope note | 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.). |
| Preferred term | Klinefelter Syndrome |
| Entry term(s) |
Klinefelter Syndromes Klinefelter's Syndrome Klinefelters Syndrome Syndrome, Klinefelter Syndrome, Klinefelter's Syndrome, XXY Syndromes, Klinefelter Syndromes, XXY XXY Syndrome XXY Syndromes |
| Concept UI |
M0545761 |
| Preferred term | Klinefelter Syndrome, Variants |
| Entry term(s) |
Klinefelter Syndromes, Variants Syndrome, Variants Klinefelter Syndromes, Variants Klinefelter |
| Concept UI |
M0545762 |
| Preferred term | 48,XXYY Syndrome |
| Entry term(s) |
Syndrome, Xxyy Syndromes, Xxyy Xxyy Syndrome Xxyy Syndromes |
| Concept UI |
M0525214 |
| Preferred term | XXY Trisomy |
| Entry term(s) |
Trisomies, XXY Trisomy, XXY XXY Trisomies |
| Concept UI |
M0545763 |
| Preferred term | 49,XXXXY Syndrome |
| Concept UI |
M0545764 |
| Preferred term | XXXY Males |
| Entry term(s) |
XXXY Male |
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