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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]
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]
Mitotic CPM - Mitotic non-disjunction can occur in a trophoblast cell or a non-fetal cell from the inner cell mass creating a trisomic cell line in the tissue which is destined to become the placental mesoderm. Meiotic CPM - Alternatively, CPM can occur through the mechanism of trisomic rescue. If a trisomic conception undergoes trisomic rescue ...
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.
46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.
Healthy women are fertile from puberty until menopause, although fertility is typically much reduced towards the extremes of this period. The onset of puberty is typically identified by menarche and the presence of secondary sexual characteristics such as breast development, the appearance of pubic hair and changes to body fat distribution.
Other risks cannot be modified and can't be changed. Risks can be firmly tied to miscarriages and others are still under investigation. In addition, there are those circumstances and treatments that have not been found effective in preventing miscarriage. When a woman keeps having miscarriages, infertility is present. [1]
Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (44+xxy) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity. The chance of passing on an X-linked dominant disorder differs between men and women.