Turner's Syndrome

What is Turner's Syndrome?

Turner's syndrome is caused by a chromosomal abnormality. It's the most common disorder of gonadal dysgenesis in females. It occurs in about 1 per 3,000 births; 95% of fetuses with this syndrome are spontaneously aborted. The syndrome produces characteristic Signs, which are irreversible.

Causes of Turner's Syndrome

Turner's syndrome occurs when an X chromosome (or part of the second X chromosome) is missing from either the ovum or sperm through nondisjunction or chromosome lag. Mixed aneuploidy may result from mitotic nondisjunction.

Signs & Symptoms of Turner's Syndrome

Signs and Symptoms include a combination of:

• Drooping eyelids
• Dry eyes
• Absent normal moisture in vagina; painful intercourse
• Incomplete development at puberty, including sparse pubic hair and small breasts
• Short height
• Webbed neck
• kidney or urinary tract defect (30%) in girl.

Diagnostic tests

Turner's syndrome can be diagnosed by chromosome analysis. Differential diagnosis should rule out mixed gonadal dysgenesis, Noonan's syndrome, and other similar disorders.

Treatment

Cardiovascular malformations must be corrected surgically. Hormonal replacement should begin in childhood and include androgen, human growth hormone and, possibly, small doses of estrogen. Later, progesterone and estrogen can induce sexual maturation.

Prevention Tips

There is no known way to prevent Turner syndrome.