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Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [15] [35] [36]
Some men have medical conditions that impair testicular testosterone production, such as Klinefelter’s syndrome. This type of testosterone deficiency is known as primary testicular failure or ...
Harry Fitch Klinefelter Jr. (/ ˈ k l aɪ n f ɛ l t ər /; March 20, 1912 – February 20, 1990) was an American rheumatologist and endocrinologist. Klinefelter syndrome is named after him. Biography
This organization connects medical and research centers internationally in an effort to improve clinical practice, research, and general understanding of differences of sex development. [68] I-DSD regularly hosts a symposium to provide updates on current care in DSD internationally, facilitate networking for those in DSD Care, and promote high ...
Because of this, 48,XXYY syndrome was originally considered a variation of Klinefelter syndrome. Shared physical and medical features resulting from the presence of an extra X chromosome include tall stature, the development of testosterone deficiency in adolescence and/or adulthood (hypergonadotropic hypogonadism), and infertility.
Gonadal dysgenesis; Specialty: Medical genetics : Diagnostic method: pelvic examination (checking for maturation of external internal genitals), general examination (looking for secondary sexual characters), chromosome karyotyping, hormone levels like FSH, LH (which are increased in case of purely XX dysgenesis), family history
In humans with more than one X chromosome, the number of Barr bodies visible at interphase is always one fewer than the total number of X chromosomes. For example, people with Klinefelter syndrome (47, XXY) have a single Barr body, and people with a 47, XXX karyotype have two Barr bodies.
It can be considered a form or variant of Klinefelter syndrome (47,XXY). [11] Individuals with this syndrome are typically mosaic, being 49,XXXXY/48, XXXX. [4] It is genetic but not hereditary, meaning that while the genes of the parents cause the syndrome, there is a small chance of more than one child having the syndrome.