Estrogen Replacement in Turner Syndrome

Estrogen Replacement in Turner Syndrome

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Babies with Turner syndrome have distinguishing physical features.

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Humans have 23 pairs of chromosomes, with 1 member of each pair inherited from each parent. One pair, called the sex chromosomes, determine the sex of a fetus. Two Xs produce a female baby while 1 X and 1 Y a male. In Turner syndrome, a baby receives a single X chromosome and the other sex chromosome is partly or totally absent. Doctors often recommend taking the female hormone estrogen around the time of puberty for girls with this genetic disorder.

Turner Syndrome

Turner syndrome, also called gonadal dysgenesis, is the most common chromosomal problem in females. Approximately 1 in every 2,500 female newborns have the disorder. Babies with Turner syndrome have a single functional X chromosome, which enables them to develop externally as females while in the womb, but the development of their internal female organs is incomplete. Their ovaries are poorly formed and never become functional, although other portions of the reproductive tract, including the uterus and vagina, are generally normal.

Other signs of Turner syndrome include a below-average weight and size at birth and slow growth during childhood, making girls with the syndrome shorter than average. Girls with Turner syndrome may also have heart valve abnormalities, low thyroid gland activity and growth problems with their bones and joints.

Estrogen Replacement

Estrogen production normally begins in girls around the time of puberty. In addition to its influence on the reproductive organs, estrogen is also important in supporting the increase in bone and overall body growth that begins at puberty. In most girls with Turner syndrome, the ovaries remain immature and underdeveloped throughout life. These girls fail to enter puberty and don't begin menstruating, develop breasts or show other signs of female sexual development.

According to a review paper published in April 2012 in the journal "Endocrine," most doctors recommend that girls with the disorder begin taking estrogen to induce puberty at around age 12. The dosage is adjusted for each girl to produce normal sexual development. The authors report that estrogen deficiency resulting from Turner syndrome can raise the risk of problems not related to sexual function, including cardiovascular disease and other disorders. Women with Turner syndrome may need estrogen replacement for most of their lives.

Other Benefits

In addition to its sexual development benefits and positive effects on growth, estrogen replacement may also reduce the risk of osteoporosis, or thinning of the bones, in women with Turner syndrome. An article published in November 2003 in "Journal of Women's Health," reported on a study of 50 women, age 30 to 59, with Turner syndrome. Of these women, 34 had received estrogen replacement for most of their lives and 16 women had not. The researchers reported that women who had not taken estrogen had an average reduction of 20 percent in the mineral content of their bones compared to the other group.

Estrogen has other benefits for girls with Turner syndrome, including improved neurological function. For example, research published in January 2000 in "Neurology" found that, in estrogen-treated girls with the syndrome, scores on some memory and language tests were higher than in girls not receiving hormone replacement.

Taking Estrogen

A doctor may recommend replacing estrogen either by taking a pill or using an estrogen-containing skin patch. While both routes effectively raise levels of estrogen in the blood, an article published in June 2009 in the "Journal of Clinical Endocrinology and Metabolism" compared the effect of estrogen with each method in 12 girls with Turner syndrome. After measuring their bone growth and pubertal development over a 1-year period, the authors concluded that estrogen delivered via a skin patch was more effective than the oral medication. This was a preliminary study and more extensive research is needed to determine the optimal route and dose of estrogen for girls with Turner syndrome.