What is Turner syndrome?

Dr. James A. Amrhein, MD
Pediatric Endocrinologist

All humans have 46 chromosomes, which determine who and what we are genetically. Boys have an X and Y chromosome. Girls have 2 X chromosomes. Turner Syndrome is a chromosomal disorder in girls in which part or all of one of the X-chromosomes is missing.

This loss of genetic material causes 2 primary features: namely, short stature and underdeveloped ovaries causing delayed or absent puberty. It is usually diagnosed when a girl is noted to be very short and a chromosome blood test is obtained. It should also be suspected if a girl has not developed breasts by 13-14 years of age or had her menstrual period by 15-16 years of age.  Effective hormonal treatment is available for both the short stature and to stimulate normal pubertal changes.

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Diana Meeks
Diana Meeks on behalf of Sigma Nursing
Family Practitioner

Turner syndrome is a genetic disorder affecting women only that is associated with primary hypogonadism. Women are normally born with two X-chromosomes, but with Turner's syndrome one of the X-chromosomes is missing or not formed completely. This leads to developmental difficulties associated with primary hypogonadism, such as delayed start of puberty (or failure to start at all), short height, and reproductive difficulties such as lack of menstruation, infertility, or problems with intercourse. Turner syndrome can also cause a host of other health problems, and women with the condition require lifelong medical attention to allow them to lead a normal life.

Dr. Jeanne Morrison, PhD
Family Practitioner

Turners syndrome is a sex chromosome abnormality in which the phenotypic appearing female offspring is missing an X-chromosome and therefore has a genotype of 45 X as opposed to the normal female which is 46 XX. Females with Turners syndrome have only vestigial ovaries and low production of estrogen and progesterone. They are short in stature and other physical characteristics include presence of a webbed neck and lymphedema of the hand and feet at birth.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.