Concept information
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Genetic Diseases, Inborn
Chromosome Disorders
Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
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Congenital Abnormalities
Chromosome Disorders
Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
Endocrine System Diseases
Gonadal Disorders
Disorders of Sex Development
Sex Chromosome Disorders of Sex Development
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Female Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Sex Chromosome Disorders of Sex Development
Término preferido
Klinefelter Syndrome
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Tipo
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mesh:Descriptor
Definición
- 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.).
Concepto genérico
Etiquetas alternativas
- Klinefelter's Syndrome
- XXY Syndrome
En otras lenguas
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francés
URI
http://data.loterre.fr/ark:/67375/JVR-BS27Q4P7-9
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