Turner syndrome

Alternative Names

Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X

Definition of Turner syndrome

Turner syndrome is a genetic condition in which a female does not have the usual pair of two X chromosomes.

Causes, incidence, and risk factors

Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY).

Symptoms

Possible symptoms in young infants include:

Signs and tests

Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if chromosome analysis is done during prenatal testing.

Treatment

Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, pubic hair, and other sexual characteristics.

Expectations (prognosis)

Those with Turner syndrome can have a normal life when carefully monitored by their doctor.

Review

Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 10/14/2009

ADAM Medical Encyclopedia

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