Schoemaker, M. Mortality in women with Turner syndrome in Great Britain: a national cohort study. Socio-economic parameters and mortality in Turner syndrome. Cancer incidence in women with Turner syndrome in Britain: a national cohort study.
Lancet Oncol. Ji, J. Risk of solid tumors and hematological malignancy in persons with Turner and Klinefelter syndromes: a national cohort study. Bosze, P. Swerdlow, A. Calanchini, M. Liver biochemical abnormalities in Turner syndrome: a comprehensive characterization of an adult population. Hamza, R. Renal anomalies in patients with Turner syndrome: is scintigraphy superior to ultrasound? Bois, E. Otologic disorders in Turner syndrome. Head Neck Dis. Cools, M. Managing the risk of germ cell tumourigenesis in disorders of sex development patients.
Rojek, A. Molecular detection and incidence of Y chromosomal material in patients with Turner syndrome. Singh, R. The anatomy and histology of XO human embryos and fetuses. Tanaka, T. Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan. Carpini, S. Spontaneous puberty in girls with early diagnosis of Turner syndrome. Pasquino, A. Borgstrom, B.
Fertility preservation in girls with Turner syndrome: prognostic signs of the presence of ovarian follicles. Birkebaek, N. Fertility and pregnancy outcome in Danish women with Turner syndrome. Bernard, V. Spontaneous fertility and pregnancy outcomes amongst women with Turner syndrome.
Bryman, I. Pregnancy rate and outcome in Swedish women with Turner syndrome. Repeated spontaneous pregnancies in 45,X Turner syndrome. Foudila, T. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome.
Chevalier, N. Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome.
Hagman, A. Morbidity and mortality after childbirth in women with Turner karyotype. Cadoret, F. Pregnancy outcome in Turner syndrome: a French multi-center study after the guidelines. Ros, C. Sheaffer, A. Sexual function in women with Turner syndrome. Womens Health 17 , 27—33 Body composition is distinctly altered in Turner syndrome: relations to glucose metabolism, circulating adipokines, and endothelial adhesion molecules.
Wooten, N. Reduced abdominal adiposity and improved glucose tolerance in growth hormone-treated girls with Turner syndrome. Short term growth hormone treatment in girls with Turner syndrome decreases fat mass and insulin sensitivity. A randomized double-blind, placebo-controlled cross-over study. Pediatrics , — The impact of sex hormone replacement. Diabetes Care 21 , — Taboada, M. Calcaterra, V. Metabolic syndrome in Turner syndrome and relation between body composition and clinical, genetic, and ultrasonographic characteristics.
Landin-Wilhelmsen, K. Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome. Atherosclerosis , — Ross, J.
Lipid abnormalities in Turner syndrome. Van, P. Monosomy for the X-chromosome is associated with an atherogenic lipid profile. Brun, S. Five-year randomized study demonstrates blood pressure increases in young women with Turner syndrome regardless of estradiol dose. Hypertension 73 , — Freriks, K. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.
Hjerrild, B. BMC Endocr. Bakalov, V. Impaired insulin secretion in the Turner metabolic syndrome. Sun, L. Glucose metabolism in Turner syndrome. X-chromosome gene dosage and the risk of diabetes in Turner syndrome.
Fracture risk and bone mineral density in Turner syndrome. Osteoporosis and fractures in Turner syndrome—importance of growth promoting and oestrogen therapy. Bone mineral density and fractures in Turner syndrome.
Shi, K. Body composition and bone mineral status in patients with Turner syndrome. Holroyd, C. Reduced cortical bone density with normal trabecular bone density in girls with Turner syndrome. Hansen, S. Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with Turner syndrome: a cross-sectional study using high-resolution-pQCT.
Bone Miner. Carrascosa, A. Spontaneous, but not induced, puberty permits adequate bone mass acquisition in adolescent Turner syndrome patients. Cleemann, L. Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome. Nguyen, H. Delay in estrogen commencement is associated with lower bone mineral density in Turner syndrome.
Climacteric 20 , — Hanton, L. Attention deficits. Atypical scarring. Aortic valve has two leaflets rather than three. Narrowing of aorta. Narrowing of the aorta. Abnormal kidney location. Displaced kidney. Eye folds. Prominent eye folds. Horseshoe kidneys. Elevated lipids in blood. Swelling caused by excess lymph fluid under skin. Heart attack. Close sighted. Near sighted. Near sightedness. Funnel chest. Flat feet. Flat foot. Drooping upper eyelid.
Short toes. Stubby toes. Squint eyes. Noninsulin-dependent diabetes. Type 2 diabetes. Type II diabetes. Blotchy loss of skin color. Tear in inner wall of large artery that carries blood away from heart.
Scar tissue replaces healthy tissue in the liver. Underdeveloped left heart. Do you have more information about symptoms of this disease?
We want to hear from you. Do you have updated information on this disease? Cause Cause. Turner syndrome is caused by a female having one normal X chromosome in each of her cells , while the other sex chromosome is either missing or structurally abnormal. Females without Turner syndrome have 2 full X chromosome in all of their cells, and males have one X chromosome and one Y chromosome.
The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing the second sex chromosome in all of their cells. This is also referred to as having monosomy X. This form results from a random error in an egg or sperm cell prior to conception. Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece has a deletion. Depending on the specific gene s that are missing, features of Turner syndrome may or may not be present.
A deletion may occur sporadically not inherited or it may be inherited from a parent. Mosaic Turner syndrome when some cells have one X chromosome and some have two sex chromosomes is caused by a random error in early fetal development shortly after conception.
It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.
Inheritance Inheritance. Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent prior to conception.
For example, if an egg or sperm cell mistakenly loses a sex chromosome , and joins at conception with an egg or sperm containing an X chromosome , the resulting child will have a single X chromosome in each cell.
Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two X chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception. In rare cases, Turner syndrome may be caused by a missing piece partial deletion of the X chromosome.
A deletion can be inherited from a parent. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetics professional.
Please visit our page on how to find a genetic clinic. Treatment Treatment. In addition, for the treatment of short stature or growth failure in children with cuases of SHOX short stature homeobox -containing gene deficiency whose epiphyses are not closed. FDA-approved indication: For the treatment of growth failure associated with Turner syndrome. FDA-approved indication: For use in the long-term treatment of children who have growth failure due to a lack of adequate endogenous growth hormone secretion.
Also for treatment of children with growth failure associated with chronic renal insufficiency and as replacement therapy for growth hormone deficiency in adults after epiphyseal closure. Prognosis Prognosis.
The long-term outlook prognosis for people with Turner syndrome is typically good. Life expectancy is slightly shorter than average but may be improved by addressing and treating associated chronic illnesses, such as obesity and hypertension. Even with growth hormone therapy , most affected people are shorter than average. Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query". Patient Registry A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Turner syndrome. Sometimes, there may be some cells with both X chromosome copies, and others with one altered copy.
Y chromosome material : A small number of people with TS have some cells with just one X chromosome copy, and others with just one X chromosome copy and some Y chromosome material.
The individual develops as a female but with a higher risk of developing a type of cancer known as gonadoblastoma. The loss or abnormality of the X chromosome occurs spontaneously at conception when the egg is fertilized. The missing or altered X chromosome causes errors during fetal development and in development after birth.
Having one child with TS does not increase the risk of having other children with the condition. It is thought that the risk of having TS is the same for all females, regardless of ethnicity or location. It occurs randomly, it is not associated with parental age, and there are no known toxins or environmental factors that appear to affect the risk. During pregnancy, an ultrasound test may reveal signs of TS. Amniocentesis or chorionic villus sampling CVS are antenatal tests that can detect chromosomal abnormalities.
If an infant has a wide or webbed neck, a broad chest, and widely spaced nipples, or if, as a girl grows, she has a short stature and undeveloped ovaries, TS may be present. A karyotype blood test can detect extra or missing chromosomes, chromosomal rearrangements, or chromosomal breaks.
This may be done by taking a sample of the amniotic fluid while the baby is still in the uterus, or by taking a blood sample after birth. If one X chromosome is missing or incomplete, TS is confirmed. Turner syndrome is a genetic condition with no cure, but treatment may help resolve issues with short stature, sexual development, and learning difficulties. Early preventive care is important to reduce the risk of complications.
Blood pressure and the thyroid gland need frequent monitoring, and any necessary treatment must be given immediately. Treatment for inner ear infections with an ear nose and throat ENT specialist can minimize the risk of hearing difficulties later in life. Hormone therapy may include estrogen, progesterone, and growth hormones. An endocrinologist or pediatric endocrinologist can provide these. Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life.
The best age to start this has not been confirmed, but treatment commonly starts from the age of 9 years. Estrogen and progesterone replacement therapy will enable sexual development and reduce the risk of osteoporosis. Blood tests can show how much hormone the patient is producing naturally. Figure 2. Oocyte Donation and Embryo Cryopreservation In most women with TS, ovarian function begins to decline before puberty, and by the time many of the patients desire to get pregnant, ovaries are failing, though follicles may still exist.
Pregnancy in Turner Syndrome and Complications of Pregnancy For women with TS, there are more maternal and fetal complications irrespective of the method of conception. Conclusions In summary, the risks of premature ovarian failure and infertility in TS are extremely high, as the ovarian reserve in girls with TS will be already exhausted before adulthood.
Author Contributions MY wrote the article and searched the literature. Conflict of Interest The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. References 1. Fertility and pregnancy in Turner syndrome.
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Oocyte in vitro maturation: a sytematic review. J Turkish Soc Obstetr Gynecol. Livebirth after orthotopic transplantation of cryopreserved ovarian tissue. Donnez J, Dolmans M. Fertility preservation in women. N Engl J Med. Ovarian cortex transplantation: time to move on from experimental studies to open clinical application. Ninety-five orthotopic transplantations in 74 women of ovarian tissue after cytotoxic treatment in a fertility preservation network: tissue activity, pregnancy and delivery rates.
Live birth after autograft of ovarian tissue cryopreserved during childhood. Dolmans M. Recent advances in fertility preservation and counseling for female cancer patients. Expert Rev Anticanc. Immunohistochemical localization of growth factors after cryopreservation and 3 weeks' xenotransplantation of human ovarian tissue.
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