Disease Information for Klinefelter's syndrome (Associated Diseases & Rule outs)

anomaly chromosomes chromosomal sex Klinefelter, chromosome anomaly sex Klinefelter, chromosome XXY syndrome, hypogonadism hypogonadotropic, hypogonadotropic hypogonadism, karyotype 47 XXY Klinefelter, Klinefelter, KLINEFELTER DISEASE, Klinefelter Reifenstein Albright syndrome, Klinefelter Reifenstein syndrome, Klinefelter Syndrome, Klinefelter syndrome (disorder), Klinefelter syndrome (KS), Klinefelter Syndromes, Klinefelter's karyotype 47 XXY, Klinefelters Syndrome, Klinefelter's syndrome, Klinefelter's syndrome (disorder), Klinefelter's syndrome karyotype 47 XXY, Klinefelter's syndrome unspecified, Klinefelter's syndrome XXY, Klinefelter's syndrome XXY (disorder), primary hypogonadism, seminiferous tubule dysgenesis, Syndrome Klinefelter, Syndrome Klinefelter's, syndrome XXY, Syndromes Klinefelter, Xq Klinefelter syndrome, XXY Klinefelter's syndrome, XXY Syndrome, XXY trisomy

A SEX CHROMOSOME DISORDER characterized by small testes, underdevelopment of secondary sexual characteristics, infertility (INFERTILITY, MALE), hyalinization and fibrosis of the seminiferous tubules, and elevated levels of gonadotropin; 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 variants include those with the karyotpes 48,XXYY; 48,XXXY; 49,XXXXY, and several mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc)-------------------------------<br>

Klinefelter"s syndrome; Klinefelter-Reifenstein-Albright syndrome;Klinefelter-Reifenstein syndrome;Reifenstein-Albright XXY syndrome; Aspermatogenesis-gynaecomastia syndrome; chromosome XXY syndrome; gynaecomastia-aspermatogenesis syndrome; medullary gonadal dysgenesis; primary microorchidism; puberal seminiferous tubule failure; sclerosing tubular degeneration; seminiferous tubule dysgenesis; XXY syndrome; A congenital endocrine disturbance characterized chiefly by dull mentality and/or behavioural problems associated with hypogenitalism and hypogonadism; The affected children have small and firm testes, lack of sperm formation, but normal size penis, and gynecomastia (usually minimal); Long limbs and relatively slim and tall statures, but tendency towards obesity in some adults; Other features are immaturity, shyness, lack of judgement, assertive unrealistic activity; The majority of Klinefelter’s individuals have an extra female chromosome, resulting in an XXY pattern and a total of 47 chromosomes instead of 46; Other patterns of chromosomal aberration such as XXY, XXYY, and some mosaic patterns may result in the same syndrome; The most frequent type of intersexuality, one per 500-700 live male births;<br>

[whonamedit_com 2005]---------------------------------------------------<br>

Hypergonadotropic Hypogonadism; Primary Hypogonadism; <br>

Seminiferous Tubule Dysgenesis; The classic form of Klinefelter Syndrome causes impaired function of the testes (primary hypogonadism) in males; This rare disorder is characterized by the presence of an extra X chromosome; Klinefelter Syndrome may not be diagnosed until puberty because the symptoms may be very subtle until that age and secondary sex characteristics are not apparent before puberty -----[nord 2005]-------------

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