15. Biesecker B. Bakalov VK, When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. Educational website from one of the world's leading hospitals, {"smallUrl":"https:\/\/www.wikihow.com\/images\/thumb\/0\/0f\/Diagnose-Turner-Syndrome-Step-1.jpg\/v4-460px-Diagnose-Turner-Syndrome-Step-1.jpg","bigUrl":"\/images\/thumb\/0\/0f\/Diagnose-Turner-Syndrome-Step-1.jpg\/aid7510153-v4-728px-Diagnose-Turner-Syndrome-Step-1.jpg","smallWidth":460,"smallHeight":345,"bigWidth":"728","bigHeight":"546","licensing":"

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\n<\/p><\/div>"}, http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/definition/con-20032572, http://www.nhs.uk/Conditions/Turners-syndrome/Pages/Diagnosis.aspx, http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/symptoms/con-20032572, http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/tests-diagnosis/con-20032572, http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/treatment/con-20032572, http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/risk-factors/con-20032572, http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/causes/con-20032572, https://www.genome.gov/19519119/learning-about-turner-syndrome/, http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/complications/con-20032572, http://press.endocrine.org/doi/full/10.1210/jcem.86.7.7683, consider supporting our work with a contribution to wikiHow. This doesn't mean that any girl having trouble in math class has TS, of course, but it may be worth consideration when other factors are present. See our, URL of this page: https://medlineplus.gov/genetics/condition/turner-syndrome/. Turner syndrome may be diagnosed by amniocentesis or chorionic villus sampling during pregnancy. 2005;90:3360–6. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. 2017 Turner syndrome is a chromosomal condition that affects development in females. 3. Philadelphia, Pa.: Elsevier Saunders, 2006:76–81.... 2. The importance of estrogen replacement in young women with Turner syndrome. 2005;47:546–9. Rao E, Backeljauw PF; International Turner Syndrome Consensus Group. 1998;133:688–92. Singer H. 2001;54:69–73. Mayo Clinic 3rd ed. Genetic Testing Registry: Turner syndrome, National Organization for Rare Disorders (NORD). The ovaries develop but typically degenerate during fetal life or in early childhood. Elsheikh M, Dev A male gets an X chromosome from his mother and a Y chromosome from his father; A female gets two X’s, one from each parent. Patients with Turner syndrome are likely to ask their family physicians about reproductive potential, and age-appropriate counseling about infertility treatments can markedly mitigate the adverse psychological impact of the diagnosis.12 In vitro fertilization (using oocytes harvested and cryopreserved before ovarian regression is complete) is being studied in young women with Turner syndrome.11 Spontaneous or assisted pregnancy carries substantial risks; therefore, preconception counseling and cardiac echocardiography or magnetic resonance imaging (MRI) are essential. This ratio, however, is much higher among miscarried and stillborn females, of which TS can play a significant role. Hunold JJ, Völkl TM, Bondy CA. 1997;16:54–63. What does it mean if a disorder seems to run in my family? 19. MedlinePlus also links to health information from non-government Web sites. St. Louis, Mo. Bondy CA, A diagnosis after the age of 50 necessitates additional tests. Hong D, Scaletta Kent J, Kesler S. Cognitive profile of Turner syndrome. Casadei B, If an urgent result is needed (e.g., because of parental anxiety or a critical clinical situation), X-specific fluorescence in situ hybridization can confirm monosomy X in less than 24 hours. King D, Bondy CA, Some genes escape X-inactivation via a process initiated by the X-inactivation-specific transcript (XIST) gene that is transcribed exclusively from the inactive genes. With over 25 years of medical research experience, Dr. Matsko was awarded the Pittsburgh Cornell University Leadership Award for Excellence. Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. Normally one X chromosome is randomly inactivated during the first week of life (when there are fewer than 200 embryonic cells); therefore, it may seem paradoxical that having a single X chromosome would cause clinical consequences. For information about the SORT evidence rating system, see page 323 or https://www.aafp.org/afpsort.xml. Sign up for the free AFP email table of contents.