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Approximately 25% to 30% of patients are mosaic, with one 45, X cell line and a second cell line that might contain, among others, either two normal X chromosomes (i.e., 45, X/46, XX), one normal and one abnormal X chromosome (i.e., 45, X/46, X,i[Xq]), or one X and one Y chromosome (i.e., 45, X/46, XY).

In apparent nonmosaic 45, X individuals, the single X chromosome is maternal in origin 80% of the time.

Most patients carrying deletions of either the short or the long arm of the X chromosome have ovarian dysgenesis.

Thus, two complete X chromosomes are necessary for normal ovarian development and function.

In the absence of a Y chromosome, the gonad develops into an ovary in which germ cells are initially present.

However, germ cells rapidly degenerate during the fetal period and the resulting lack of oocytes leads to streak gonads and amenorrhea.

Another phenotype of Turner syndrome is infertility, resulting from increased germ cell attrition.Your access to the NCBI website at gov has been temporarily blocked due to a possible misuse/abuse situation involving your site.This is not an indication of a security issue such as a virus or attack.In the male variations with extra X chromosomes (XXYY, XXXY, XXXXY), features of hypogonadism and testosterone deficiency occur as described for XXY/KS, and similar recommendations for testosterone treatment should be followed.For the females with tetrasomy and pentasomy X, research is limited; however, the multiple cases of genitourinary malformations and menstrual dysfunction support the recommendation for endocrinology referral and follow-up, and imaging to identify any abnormalities in renal and reproductive organs.

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