Definition of Turner Syndrome

A spontaneous (nonhereditary) chromosomal disorder in which there are abnormalities of the X chromosome, the sex chromosome that establishes female gender, resulting in various anatomic and physiologic anomalies.

These abnormalities may include only a single X chromosome (X chromosome deletion) instead of the normal pair of X chromosomes, or one complete and one fragmented or partial X chromosome. As well, the pattern may be mosaic, with some cells in the body carrying the normal paired X chromosome complement and others carrying the abnormality.

Turner’s syndrome affects only females.


Though symptoms of Turner’s syndrome vary depending on the severity of the chromosomal abnormality, characteristic traits include very short stature and loss or lack of ovarian function. An unusually short neck with webbed skin, and a broad, shield-shaped chest may be prominent at birth to suggest the presence of Turner’s syndrome though often the diagnosis comes later in childhood or early adolescence when secondary sexual characteristics fail to develop.

Genetic testing (karyotype) confirms the diagnosis. Anomalies of the heart (coarctation of the aorta) and kidneys (horseshoe kidney) are also common. As adults, women who have Turner’s syndrome have increased risk for type 2 diabetes, hypothyroidism (underactive thyroid gland function), hypertension (high blood pressure), and osteoporosis.


Hormone therapy with estrogens and progestin from puberty through midlife (to the age menopause would normally occur, around 50) is the standard course of treatment for Turner’s syndrome. This treatment causes relatively normal development of secondary sexual characteristics and sometimes of ovarian function to produce hormones, though the ovaries do not produce normal OVA.

In mosaic Turner’s syndrome, the woman’s ovaries may function until early adulthood. Assisted reproductive technology (art) techniques can make pregnancy possible. There are no measures to prevent Turner’s syndrome.


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