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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]
Klinefelter syndrome. Klinefelter’s syndrome occurs when a man is born with one or more extra X chromosomes, leading to a variety of impacts that include underdeveloped testicles, impaired ...
Like Klinefelter syndrome, the presence of additional X chromosomes affects the male reproductive system, can cause physical abnormalities, and can affect cognitive development. When comparing 47,XXY and 48,XXXY, there is a greater risk for congenital malformations and more medical problems in those with 48,XXXY.
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. [14] Males with Klinefelter syndrome usually have a karyotype of 47,XXY as a result of having two or more X chromosomes. [15]
Turner syndrome and Klinefelter syndrome. It is also one of the signs of CHARGE syndrome. Examples of acquired causes of hypogonadism: [citation needed] Opioid Induced Androgen Deficiency (resulting from the prolonged use of opioid class drugs, e.g. codeine, Dihydrocodeine, morphine, oxycodone, methadone, fentanyl, hydromorphone, etc.)
Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. [1]
This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present with atypical genitals. XX, Sex reversal: consist of two groups of patients with male phenotypes, the first with translocated Sex-determining region Y protein (SRY) and the second with no SRY gene.
XXYY is still considered a variation of Klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, XXY, and the most current research does not suggest that there should be any differences in the evaluation and treatment of testosterone deficiency in 48,XXYY ...