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Turner syndrome   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X

Definition:

A disorder in women caused by a chromosomal defect. This disorder inhibits sexual development and causes infertility.

Causes and Risks

Turner syndrome is usually caused by a missing X chromosome. It affects 1 out of 3,000 live births. It is usually sporadic meaning that it is not inherited from a parent. Rarely, a parent silently carries rearranged chromosomes that can result in Turner syndrome in a daughter; this is the only situation in which Turner syndrome is inherited. There are many manifestations of this syndrome, but the main features are short stature, webbing of the skin of the neck, absent or retarded development of secondary sexual characteristics, absence of menstruation, coarctation (narrowing) of the aorta, and abnormalities of the eyes and bones. The condition is either diagnosed at birth because of the associated anomalies, or at puberty when there is absent or delayed menses and delayed development of normal secondary sexual characteristics.

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