Turner Syndrome

45,X karyotype
(note unpaired X at lower right)

By Angie Best-Boss

Turner Syndrome, a chromosomal abnormality occurs in about 1 out of 2500 live female births. 98%-99% of pregnancies with Turner syndrome spontaneously miscarry. Basically, it means she is missing one of the x chromosomes in most of her cells, and has a fragmented x in a few others.

Physical Traits

The most common feature of Turner syndrome is short stature. The average height of an adult TS woman who has received human growth hormone treatment is 4'8". Other common features include:

  • Narrow, high-arched palate (roof of the mouth)
  • Retrognathia (receding lower jaw)
  • Low-set ears
  • Low hairline
  • Webbed neck
  • Slight droop to eyes
  • Strabismus (lazy eye)
  • Broad chest
  • Cubitus valgus (arms that turn out slightly at the elbows)
  • Scoliosis (curvature of the spine)
  • Flat feet
  • Small, narrow fingernails and toenails that turn up
  • Short fourth metacarpals (the ends of these bones form the knuckles)
  • Edema of hands and feet, especially at birth

Turner Syndrome is a random mutation that can happen to any woman. There is nothing that parents can do to prevent it.

Family Building with Turner Syndrome

According to the Turner Syndrome Society, most (90%) TS individuals will experience early ovarian failure. The ovaries produce eggs and hormones necessary for the development of secondary sexual characteristics. Estrogen replacement therapy is necessary for breast development, feminine body contours, menstruation and proper bone development. About one third of TS individuals will show some signs of breast development without estrogen treatment; however, many will not complete puberty, and those that do often have premature ovarian failure.

Therefore, most women will require estrogen from puberty until the normal age of menopause. However, according to the “Wellness for Girls and Women with Turner Syndrome” Consensus Conference, the National Institute of Child Health and Human Development indicated that in Turner syndrome, about a third of the diagnosed girls undergoes at least some pubertal development, and up to 5% are fertile. About 50% of Turner syndrome girls have follicles in their ovaries.

Family Building Options

Although most women with Turner syndrome are infertile because of abnormal ovary development, the Cincinnati Children's Heart Center reports there have been case reports of women with Turner syndrome becoming pregnant on their own. As one woman beginning the fertility journey suggests, “I'm not 100% sure what that path will be. We hope to become parents via egg donation but if that doesn't happen we're open to pursuing adoption.”

Egg Donation and IVF
As Atlanta fertility specialist Mark Perloe explains, “In order to conceive, you will probably need to use an egg donor. The good news is that if you get proper treatment and supervision, this condition should not affect your ability to carry the pregnancy, nor pose other risks to the fetus during the pregnancy.”
Donor Embryo Transfer
Another option along the same line is undergoing IVF using a donated embryo. Some clinics have embryos available, while some private agencies arrange matches. Still others prospective parents may be able to locate their own match.
Pregnancy Risks
Women with Turner syndrome may have additional pregnancy risks. A Danish study followed 20 women who received donor eggs. Eighteen became pregnant, but of those pregnancies, 40% ended in miscarriage. The resulting article in the Journal of Human Reproduction suggested that pregnancy and implantation rates after oocyte donation were high in women with Turner syndrome, but the risk of cardiovascular and other complications is also high. Careful assessment before and during follow-up of pregnancy are important. Transfer of only one embryo at a time to avoid the additional complications caused by twin pregnancy is recommended.
Adoption
The most common solution for family-building with Turner Syndrome is adoption. But, as one woman explains, “It's so easy for someone to say "You can always adopt." That may be so but there are things that effect the ability to adopt such as finances, all the red tape, how much you'll be able to be home to care for the child.” If you have a severe kidney or heart problems, adoption may be ruled out by some organizations.

To Learn More:

Turner Syndrome Society of the United States
The Turner Syndrome Society of the U. S. creates awareness, promotes research, and provides support for all persons touched by Turner Syndrome. 10960 Millridge North Drive #214A, Houston TX 77070, (800) 365-9944
Major Aspects of Growth In Children (MAGIC) Foundation
Support services for the families of children afflicted with a wide variety of chronic and/or critical conditions. MAGIC is made up of more than 25,000 families whose children (and affected adults) have growth hormone deficiency or other medical conditions which affect their growth. While growth hormone deficiency is the most commonly known disorder it is not the most common cause of growth failure. 6645 W. North Avenue, Oak Park, IL 60302, (800) 362-4423

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