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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. [14] [34] [35]
Low testosterone affects up to 39 percent of adult men in the US over the age of 45, and becomes increasingly prevalent as men age. ... such as Klinefelter’s syndrome. This type of testosterone ...
It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2] Mosaic loss of the Y chromosome in previously non-mosaic men grows increasingly common with age. [3]
Males with 48,XXXY are diagnosed anywhere from before birth to adulthood as a result of the range in the severity of symptoms. [3] The age range at diagnosis is likely due to the fact that XXXY is a rare syndrome, and does not cause as extreme phenotypes as other variants of Klinefelter syndrome (such as XXXXY). [3]
DSDs caused by chromosomal variation generally do not present with genital ambiguity. This includes sex chromosome DSDs such as Klinefelter syndrome, Turner syndrome and 45,X or 46,XY gonadal dysgenesis. [13] Males with Klinefelter syndrome usually have a karyotype of 47,XXY as a result of having two or more X chromosomes. [14]
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.
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy, infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries. [2]
XXXYY syndrome was first recorded in 1963, in a 26-year-old man with a moderate intellectual disability living at the Utah State Training School who was ascertained due to having physical traits of Klinefelter syndrome. By that time, three men with XXYY syndrome had been reported.