A Consumer Health Interactive Radio piece by Laurie Udesky

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Laurie Udesky: Turner syndrome is a rare disorder that strikes approximately one out of every 2,500 females in the United States. Girls and women who have Turner syndrome are missing or have a defect in one of their sex chromosomes. The cause of Turner syndrome is unknown, but experts believe that the genetic defect occurs randomly. Hallmarks of the disorder (which can be treated successfully with hormones) are short stature and failure to develop ovaries and other secondary sex characteristics.

Dr. Judith Ross is a pediatric endocrinologist who specializes in Turner syndrome. She has investigated all aspects of the disorder and the effectiveness of treatment. She is a professor in the department of pediatrics, and chief of the division of pediatric endocrinology at Thomas Jefferson University in Philadelphia. She is also affiliated with A.I. Dupont Hospital for Children in Wilmington, Delaware. I talked with Dr. Ross about the complexities of Turner syndrome and how innovations in understanding Turner syndrome have improved the quality of life for girls and women who have it. I'm Laurie Udesky.

Udesky: When Dr Judith Ross first began investigating Turner syndrome at the National Institutes of Health 25 years ago, her research focus was partly shaped by the concerns of parents of girls with Turner syndrome whom she met.

Dr. Judith Ross: Their concerns were, first and foremost, what will my child's growth and development be like? What can we do to help her function normally as an adult? Children were treated younger than their chronological ages, sometimes they were treated like little dolls -- very cute, too small, younger.

Udesky: The answer to those parents' wishes came in the 1990s with the approval by the Food and Drug Administration of growth hormone for the treatment of girls with Turner syndrome. Though it may not be a perfect solution for everyone with Turner syndrome, it can help many girls reach a final adult height several inches taller than they might otherwise have been.

Ross: There are many, many studies demonstrating this now, so it’s considered standard medical care for children with short stature and Turner syndrome to be treated with growth hormone.

Udesky: Since the physical manifestations of Turner syndrome were first identified in 1938, the hormone estrogen has been used to bring on menstruation and breast development in girls around the age of puberty.

The purpose of estrogen therapy for these pubescent girls may be to help them develop breasts and menstruate, but Ross wondered if there were any overlooked benefits of using estrogen.

Numerous studies have documented learning disabilities often first recognized at school such as poor hand eye coordination and trouble with math. Other studies showed that years of being much shorter than their peers, treated as younger than their age, not to mention problems learning left-brain kind of math skills, had worn away their self-confidence. Dr. Ross led a landmark study on Turner syndrome that measured whether estrogen therapy had improved problems with thinking, perception, and mood in girls with Turner syndrome. What Ross's research team found about estrogen therapy was striking:

Dr. Judith Ross: Their self-image was improved, for one thing. They just felt better about themselves, and you can imagine multiple reasons of why a girl who is not going through puberty at the same age as her peers would notice it. It could have an impact. We know that estrogen affects the brain in different ways. There are several different pathways, so it's not surprising that it would have an effect on multiple areas. So what we observed was mood, also the ability to put pegs in little rows. What that means is there's a slight improvement in what we call "spatially-mediated motor function." That means that your eye is looking and your hand is coordinating -- maybe [while] driving, maybe doing activities like sewing or working at the computer.

Udesky: In recent years, there's been controversy about the safety of taking estrogen after menopause. But Ross insists it's not the same issue.

Ross: Well, I welcome the opportunity to discuss this because it's been a very controversial area. The estrogen therapy in girls and adults with Turner syndrome is estrogen replacement therapy. It's very different than estrogen treatment of the post-menopausal women. I think that women with Turner syndrome need to be taking estrogen [because] there's a tremendous risk for osteoporosis. Estrogen is necessary for breast development, vaginal secretions, self-image, etc. So I think that women [with Turner syndrome] who don't take estrogen are putting themselves at risk during adolescence and adulthood. What's controversial is the use of estrogen replacement in the post-menopausal women. But for the younger woman with Turner syndrome, estrogen replacement therapy is critical.

Udesky: Researchers like Ross have helped shape the approaches to improving the quality of life for girls and women with Turner syndrome. As such, Ross is concerned that with all the complexities of Turner syndrome that parents contend with day to day, they overlook behaviors common to the disorder that are treatable.

Ross: I think there's an increased incidence of both attention deficit with hyperactivity and attention deficit without hyperactivity. This is underdiagnosed and undertreated in girls with Turner syndrome. So if there's concern by a parent, I recommend further evaluation.

Udesky: Because girls with Turner syndrome can be missing all or part of a sex chromosome, the severity and signs of the disorder -- and when they're first recognized --can vary greatly. Turner syndrome can be identified at birth or before on amniocentesis. Classic signs are extra flaps of skin -- a so-called webbed neck, low-set ears, and puffy hands and feet at birth. Turner syndrome can also cause life-threatening conditions even in childhood and infancy, like high blood pressure and a malformation of the heart's aorta, called coarctation. This heart problem decades ago could have been an automatic death sentence for a Turner syndrome baby, but not now.

Ross: We can treat things that would have shortened life in the past, such as cardiac conditions. Babies are born now and get surgery to correct coarctation of the aorta immediately.

Udesky: And although years ago, the idea that a women with Turner syndrome could get pregnant was unheard of, it's now possible with reproductive technology.

Ross: The outcome for women with Turner syndrome to carry a pregnancy is dramatically changing. It's far more likely in 2006 that a woman with TS can carry this pregnancy and have a baby. We caution women to get a thorough cardiac evaluation.

Udesky: That's because women with the disorder have a greater risk of heart related diseases like high blood pressure, which can worsen during pregnancy, according to Ross.

As far as new treatments go, Ross says that she and other Turner syndrome researchers are investigating whether hormone therapy in younger girls may help their quality of life.

Ross: This is a rich area for future study. I think that there are many unanswered questions. We'd like to know should this be something to consider in childhood, and I don't think we have the answer yet. I think we want to do additional studies, look at the long-term effects and look at long-term safety. I think that another area of potential interest also relates to androgen treatment. The ovaries in girls [normally] make estrogen type hormone and also androgen type hormones. So there are additional studies going on currently looking at treating girls with Turner syndrome with very, very low doses of androgen and seeing whether that affects learning disabilities.

Udesky: For Consumer Health Interactive, I'm Laurie Udesky

First published December 12, 2006
Last updated May 21, 2008
Copyright © 2006 Consumer Health Interactive