Skip navigation

Disease Klinefelter Syndrome

Name Klinefelter Syndrome
Synonyms 48,XXYY Syndrome | 49,XXXXY Syndrome | Klinefelter's Syndrome | Klinefelters Syndrome | Klinefelter Syndromes | Klinefelter Syndromes, Variants | Klinefelter Syndrome, Variants | Syndrome, 48,XXYY | Syndrome, Klinefelter | Syndrome, Klinefelter's | Syndromes, 49,XXXXY | Syndromes, Klinefelter | Syndromes, Variants Klinefelter | Syndromes, XXY | Syndromes, Xxyy | Syndrome, Variants Klinefelter | Syndrome, XXY | Syndrome, Xxyy | Trisomies, XXY | Trisomy, XXY | XXXY Male | XXXY Males | XXY Syndrome | XXY Syndromes | XXY Trisomies | XXY Trisomy | Xxyy Syndrome | Xxyy Syndromes
Definition 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.).
Categories Congenital abnormality | Endocrine system disease | Genetic disease (inborn) | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D007713
External Links

Top ↑ Ancestors

1. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes Sex Chromosome Disorders of Sex Development Has associated chemicals Has associated genes Klinefelter Syndrome Has associated chemicals Has associated genes
2. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes Sex Chromosome Disorders of Sex Development Has associated chemicals Has associated genes Klinefelter Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Sex Chromosome Disorders Has associated chemicals Has associated genes Sex Chromosome Disorders of Sex Development Has associated chemicals Has associated genes Klinefelter Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes Sex Chromosome Disorders of Sex Development Has associated chemicals Has associated genes Klinefelter Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Sex Chromosome Disorders Has associated chemicals Has associated genes Sex Chromosome Disorders of Sex Development Has associated chemicals Has associated genes Klinefelter Syndrome Has associated chemicals Has associated genes
6. DiseasesEndocrine System Diseases Has associated chemicals Has associated genes Has associated exposure references Gonadal Disorders Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes Sex Chromosome Disorders of Sex Development Has associated chemicals Has associated genes Klinefelter Syndrome Has associated chemicals Has associated genes
7. DiseasesEndocrine System Diseases Has associated chemicals Has associated genes Has associated exposure references Gonadal Disorders Has associated chemicals Has associated genes Has associated exposure references Hypogonadism Has associated chemicals Has associated genes Klinefelter Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

None.