Turner Syndrome is a genetic condition found only in females that results when one of the X chromosomes is missing partially or entirely. Due to the nature of this condition, various gynecological conditions can be present.
Gynecology Conditions and Turner Syndrome
The most common condition related to gynecology in women with Turner Syndrome is primary ovarian insufficiency (POI). Due to the single X chromosome, the ovaries stop functioning early in life, which leads to infertility (the inability to become pregnant), delayed or absent puberty (breast and pubic hair never develop on their own), and amenorrhea (absence of periods).
The timing of when the ovaries stop functioning can depend on whether all the cells contain a single X or some have more X material, called mosaic Turner Syndrome. In classic Turner Syndrome, the ovaries often stop functioning as a young child, so puberty and periods never start. In mosaic Turner Syndrome, puberty may happen on its own but periods either do not start or stop typically in the teenage years or young adulthood. Once the ovaries stop functioning, they do not release eggs each month, making pregnancy very rare. It also means the ovaries do not make hormones, especially estrogen and progesterone, that are needed for bone and heart health.
Delayed Puberty Treatment with Turner Syndrome
Delayed puberty is treated first with estrogen and is typically started in girls with Turner Syndrome around age 11 or 12, but the timing is individualized based on each girl’s medical history, her height and growth pattern, and any signs of spontaneous puberty. A blood test called follicle stimulating hormone (FSH) may be ordered to assess for any signs of ovarian function.
If estrogen treatment is indicated, the treatment typically starts with a very low dose estrogen patch (a band-aid like sticker with medication that absorbs through the skin), sometimes cut into sections for an even smaller dose, and often worn for 3-4 days, changing twice weekly. The dose is slowly increased every few months until an adult dose is reached. The puberty stages are typically assessed by exam at least every 6 months to see how puberty is progressing.
After about 2 years of estrogen therapy or after the first period occurs, the hormone progesterone is added. Progesterone helps to regulate periods and to prevent cancer of the uterus. It comes in many forms including pills, injection, arm implant or progesterone-containing intra-uterine device. Typically, it is first given in pill form and taken daily for 10-14 days each month.
Infertility Treatment with Turner Syndrome
Unfortunately, there are currently no known treatments to restore the loss of fertility related to Turner Syndrome. Research is ongoing to see if fertility can be preserved by removing one of the ovaries in very young girls with Turner Syndrome in order to freeze the tissue, but this is still experimental. It has not yet been shown to lead to pregnancy, so this procedure is only performed as part of a research study.
Infertility could be treated by using an egg donor with partner sperm or a donated embryo for pregnancy. However, pregnancy is especially risky in Turner Syndrome due to a risk of aortic dissection, a critical cardiac condition that can be life threatening. For that reason, it is important for a patient and her family to carefully consider this risk in consultation with specialists before considering pregnancy. Given this risk, some women may opt to use a gestational carrier, a surrogate or adoption to grow their families. Some women may not desire to be parents, prefer to be pet parents, or instead become a stepparent or the best aunt!
It is important that while there are many ways to have a family, the loss of potential for fertility is a difficult diagnosis to receive that can affect a woman and/or her family’s quality of life. Acknowledging the loss, being open with your child about different ways families are formed and seeking psychologic care for yourself or your child may help if you are struggling with this.
For Turner Syndrome specifically, gynecologists can help with puberty induction (starting estrogen to develop breasts and pubic hair), prescribing hormone replacement therapy (estrogen and progesterone) until the average age of menopause, review fertility options and discuss pregnancy risks related to Turner Syndrome. They can also help with the gynecology care every adolescent and woman needs, including sexual health, contraception, cervical cancer prevention and screening and breast exams, among many other aspects.
Chelsea Kebodeaux, MD is a member of the Pediatric and Adolescent Gynecology physician team as well as the Fertility and Reproductive Health Program physician team at Nationwide Children's Hospital.
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