Turner's syndrome

Alternative names:

Bonnevie-Ullrich syndrome; gonadal dysgenesis; monosomy X

Definition:

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

Causes, incidence, and risk factors:

Turner's syndrome is caused by a missing X chromosome. It affects 1 out of 3,000 live births. 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 absence of menses and delayed development of normal secondary sexual characteristics.