Klinefelter Syndrome [Klinefelterův syndrom]

topical
82
Terms

48,XXYY syndrom
49,XXXXY syndrom
syndrom XXY
trizomie XXY
varianty Klinefelterova syndromu
XX mužský syndrom
XXXY muži

 

48,XXYY Syndrome
49,XXXXY Syndrome
Klinefelter Syndrome, Variants
Klinefelter's Syndrome
XXXY Males
XXY Syndrome
XXY Trisomy
Xxyy Syndrome

Persistent link   https://www.medvik.cz/link/D007713
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.).

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
DUI
D007713 MeSH Browser
CUI
M0012062

C Diseases
C12.050.351.875 Urogenital Abnormalities 145
C12.050.351.875.253 Disorders of Sex Development 231
C12.050.351.875.253.795.124 Freemartinism
C12.050.351.875.253.795.249 Gonadal Dysgenesis, Mixed 9
C12.050.351.875.253.795.500 Klinefelter Syndrome 82
C12.050.351.875.253.795.750 Turner Syndrome 272
C12.200.706.316 Disorders of Sex Development 231
C12.200.706.316.795.124 Freemartinism
C12.200.706.316.795.249 Gonadal Dysgenesis, Mixed 9
C12.200.706.316.795.500 Klinefelter Syndrome 82
C12.200.706.316.795.750 Turner Syndrome 272
C12.800.316.795.124 Freemartinism
C12.800.316.795.249 Gonadal Dysgenesis, Mixed 9
C12.800.316.795.500 Klinefelter Syndrome 82
C12.800.316.795.750 Turner Syndrome 272
C16.131.260 Chromosome Disorders 259
C16.131.260.830 Sex Chromosome Disorders 11
C16.131.260.830.835.249 Gonadal Dysgenesis, Mixed 9
C16.131.260.830.835.500 Klinefelter Syndrome 82
C16.131.260.830.835.750 Turner Syndrome 272
C16.131.939.316 Disorders of Sex Development 231
C16.131.939.316.795.124 Freemartinism
C16.131.939.316.795.249 Gonadal Dysgenesis, Mixed 9
C16.131.939.316.795.500 Klinefelter Syndrome 82
C16.131.939.316.795.750 Turner Syndrome 272
C16.320.180 Chromosome Disorders 259
C16.320.180.830 Sex Chromosome Disorders 11
C16.320.180.830.835.249 Gonadal Dysgenesis, Mixed 9
C16.320.180.830.835.500 Klinefelter Syndrome 82
C16.320.180.830.835.750 Turner Syndrome 272
C19.391.119.795.124 Freemartinism
C19.391.119.795.249 Gonadal Dysgenesis, Mixed 9
C19.391.119.795.500 Klinefelter Syndrome 82
C19.391.119.795.750 Turner Syndrome 272
C19.391.482 Hypogonadism 271
C19.391.482.293 Eunuchism 10
C19.391.482.600 Kallmann Syndrome 10
C19.391.482.629 Klinefelter Syndrome 82
C19.391.482.814 Sexual Infantilism 3