Thus, for patients with heart problems, pregnancy is not recommended. A study by Oktay et al. Explore Dialogues in Oncofertility More. The timeline and rate at which this occurs is less clear, and may be different for each woman with Turner syndrome. Research on Fertility Preservation in Turner syndrome Mosaicism in TS germ cells tends to lessen the degree of ovarian failure Visser et al. Estrogen replacement therapy ERT is often used starting at around age 12 years for girls with TS who have not yet gone through spontaneous puberty. Teresa K. Oncofertility Professional Engagement Network.
This syndrome is an instance of monosomy, and it is the only one that is not lethal once the child is born.
Women with Turner syndrome currently have limited reproductive options. With time as an important factor in successfully treating cancer, ovarian cryopreservation is often preferred over ovarian stimulation, which takes a few weeks to complete. Alternatively, adoption is an option for women with Turner syndrome who are infertile or do not want to risk pregnancy or cannot afford gestational surrogacy or oocyte donation.
Fertility Preservation Process The benefits of follicle retrieval and cryopreservation can reach beyond cancer patients as the process theoretically applies to other women facing infertility. While the genetic mechanism of ovarian failure has been studied, the timeline and rate at which this occurs is less clear, and may be different for each woman with Turner syndrome. This has been successful in promoting pubertal development Gonzalez, Although ERT helps commence puberty, most girls with Turner syndrome are infertile due to ovarian failure.
However, not every girl has complete ovarian failure at birth. However, some girls with Turner syndrome have what is called mosaicism; not all cells are missing the second X chromosome.
About Dialogues in Oncofertility. So, while ovarian failure is a hallmark of Turner syndrome, not every girl will face infertility, and there may be time before ovarian failure occurs to preserve fertility. J Clin Endocrinol Metab, 94 1 Hagen, C. Serum levels of anti-Mullerian hormone as a marker of ovarian function in healthy females from birth to adulthood and in Turner syndrome patients. Figure 1.
Some of these considerations include determining the best time to take ovarian follicles; which girls would benefit from fertility preservation; the yield of viable oocytes from the woman; and whether surrogacy is a viable option when pregnancy is contraindicated due to cardiovascular risks.
The benefits of follicle retrieval and cryopreservation can reach beyond cancer patients as the process theoretically applies to other women facing infertility. Scientific Committees. Because of ovarian failure, many girls are not able to enter puberty on their own. However, if the woman has heart complications, pregnancy can be dangerous.
Pov: my life with turner syndrome
Eleven oocytes were retrieved and cryopreserved by vitrification. The girl has not yet used the frozen oocytes to attempt a pregnancy, but the process of retrieval was successful. However, it can be difficult to know the extent of mosaicism present in the germline, as a blood karyotype does not indicate mosaicism in germ cells. Girls with mosaic karyotypes more often had measurable levels of AMH, indicating that they may have viable eggs.
However, many questions remain and must be addressed. Hum Reprod, 23 2 Oktay, K. Fertility preservation by ovarian stimulation and oocyte cryopreservation in a year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failure.
Eight oocytes that matured were cryopreserved by vitrification Huang et al. Thus, GHT is considered standard of care once growth failure is demonstrated, and can help improve final adult height. The prevailing hypothesis for ovarian failure is the faulty meiotic pairing in cell division of a 45,X germ cell that le to accelerated apoptosis of germ cells. Mosaicism in TS germ cells tends to lessen the degree of ovarian failure Visser et al.
Cancer treatments including chemotherapy and radiation can often result in infertility for women. This is predicted to have direct implications on ovarian failure and thus possible fertility preservation options.
Turner syndrome (monosomy x) in children
This research has shown that the level of mosaicism is correlated with positive fertility indicators, but further studies on ovarian failure are needed to more precisely pinpoint the age at which fertility can be best preserved. Similar to the first case, the woman has not yet tried to achieve a pregnancy with these retrieved oocytes. References: Borgstrom, B. Please note that some site information may be inaccurate while adjustments to reflect this organizational change are made.
You are here Home. This process has been largely successful for cancer patients. It is important to note that while oocyte cryopreservation has been successful in case reports, because this process is very new, successful pregnancy has not yet been reported Hewitt et al.
Explore resources for patients, physicians and educators More. J Clin Endocrinol Metab, 95 11 Hewitt, J. Fertility in Turner syndrome. For Patients. Current Reproductive Options for Women with Turner syndrome Women with Turner syndrome currently have limited reproductive options. This condition occurs with a similar frequency in all populations.
It is known that most girls with Turner syndrome have complete ovarian failure by the end of puberty. The process of cryopreservation involves laparoscopic surgery to remove ovarian tissue containing immature oocytes. Studies confirm that viable oocytes arise from 46,XX germ cells and 45,X germ cells are eliminated. The tissue is then frozen in strips, to be matured and used later by the patient, either through in-vitro fertilization or transplantation Figure 1.
The science behind preservation for girls with Turner syndrome is Women wants sex Turner to be perfected, but it is a promising approach to providing fertility options to the Turner syndrome population in the near future. Why Ovarian Failure? The best time to try fertility preservation is unknown.
Case reports provide some evidence that patients with mosaic karyotypes tend to have more potentially viable eggs than those with a 45,X karyotype. Borgstrom, B. Fertility preservation in girls with turner syndrome: prognostic s of the presence of ovarian follicles.
Turner syndrome is a developmental disorder and is caused by the absence or structural abnormality of a sex chromosome, typically an X chromosome. In particular, Turner syndrome most noticeably affects growth and endocrine health. In girls with TS, ovarian failure may start as early as 18 weeks into fetal life.
While failure can begin as a fetus, it is believed that younger girls are most likely to have more viable oocytes than their older counterparts. For those who become pregnant, doctors recommend surveillance for hypertension and periodic echocardiograms throughout the pregnancy. Pediatric endocrinologists have established practice guidelines for management of Turner syndrome, including thyroid function tests starting at age four, and evaluation for growth and pubertal development starting at age For issues with growth, girls receive growth hormone therapy GHT injections. Hum Reprod, 28 7 Department of Obstetrics, Gynecology and Reproductive Biology.
Another recent case study involved a 16 year old with mosaic Turner syndrome who underwent a successful laparoscopic wedge resection. While preserving biological relatedness, this can be a socially uncomfortable option for these women. Recently, oocyte cryopreservation has been pursued in research as a possible reproductive option for women with Turner syndrome.
Moving Forward It is known that most girls with Turner syndrome have complete ovarian failure by the end of puberty. This likely means surgical intervention for preservation before the child can give consent; this must be addressed with patients and parents. Clin Endocrinol Oxf79 5 Huang, J. Cryopreservation of ovarian tissue and in vitro matured oocytes in a female with mosaic Turner syndrome: Case Report. Fertil Steril, 94 2 Visser, J. Anti-Mullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment.
Reproductive issues in women with turner syndrome
Natural History Turner syndrome is a developmental disorder and is caused by the absence or structural abnormality of a sex chromosome, typically an X chromosome. Cryopreservation of ovarian follicles for future use before undergoing cancer treatment creates the possibility for women to have biological children after surviving cancer.
The latest from the Oncofertility Consortium More.