Turner Syndrome Health Article

Turner Syndrome

A genetic disorder caused by a missing X chromosome that occurs only in fernales.

Victims of Turner syndrome are characterized by short stature, absence of secondary sexual characteristics, infertility, and a number of other physical abnormalities. The condition was first identified in 1928 by Dr. Henry H. Turner, for whom it is named. The underlying chromosomal defect was discovered in 1959. Turner syndrome occurs in approximately one out of every 2,500 live births. However, all but 2% of fetuses affected by the disorder are miscarried. Of all the chromosomal abnormalities that result in spontaneous abortion or miscarriage, Turner syndrome is the most common, accounting for about 20% of all miscarriages.

Most women with Turner syndrome are under 5 feet (1.5 m) tall, averaging 4 feet 7 inches (1.4 m). They have a distinctive appearance that may include the following characteristics: puffiness of the hands and feet in the first year of life; cross-eyes; a short, webbed neck and a small chin; a pronounced bending outward of the elbows; short fingers and toes; curved, underdeveloped nails; birthmarks; and a broad chest with widely spaced nipples. In addition to these visible signs, common features of the condition include hypertension, thyroid disorders, osteoporosis, and abnormalities of the heart, kidney, or urinary tract. Women with Turner syndrome are born with underdeveloped ovaries that are eventually replaced by connective tissue. Because of the resulting lack of sex hormones, they do not have menstrual periods and their breasts remain undeveloped, although they may develop underarm and pubic hair. Turner syndrome does not affect intelligence, although persons with the condition have poor spatial perception and mathematical aptitude, often accompanied by learning disabilities.

About one-third of women with Turner syndrome are diagnosed within six weeks of birth, one-third are diagnosed in childhood, and the remaining third are diagnosed in adolescence when they fail to mature sexually. Two types of treatment have been effective in alleviating the symptoms of Turner syndrome. With early diagnosis, growth hormone can help women affected by the condition come closer to attaining a normal height. Once full growth has been achieved, the administration of sex hormones can produce breast development and menstruation. In 1986 hormone treatments enabled two women with Turner syndrome to bear children with the aid of in vitro fertilization. Persons with Turner syndrome have normal life expectancies and can lead independent and productive lives.

See also Genetic Disorders

Audiovisual Recordings

Turner Syndrome. North York, Ontario: Turner's Syndrome Society, 1989.

Organizations

Turner's Syndrome Society, Inc.
Address: 814 Glencairn Avenue
North York, Ontario M6B 2A3
Canada
Telephone: toll-free (800) 465-6744; (416) 781-2086;
(416)781-7245