BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuTurner syndromeBonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X; XOTurner syndrome is a rare genetic condition in which a female does not have the usual pair of X chromosomes. Causes The typical number of human chromosomes is 46. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females typically have 2 of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY).In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, a female with Turner syndrome has only 1 X chromosome. Others may have 2 X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with 2 X chromosomes, but other cells have only 1. Symptoms Possible findings of the head and neck include:Ears are low-set. Neck appears wide or web-like. Roof of the mouth is narrow (high palate). Hairline at the back of the head is lower. Lower jaw is lower and appears to fade away (recede). Drooping eyelids and dry eyes.Other findings may include:Fingers and toes are short. Hands and feet are swollen in infants. Nails are narrow and turn upward. Chest is broad and flat. Nipples appear more widely spaced. Height at birth is often smaller than average.A child with Turner syndrome is much shorter than children who are the same age and sex. This is called short stature. This problem may not be noticed in girls before age 11.Short statureA child who has short stature is much shorter than children who are the same age and sex. Your health care provider will go over your child's growth ...ImageRead Article Now Book Mark Article Puberty may be absent or not complete. If puberty occurs, it most often begins at the normal age. After the age of puberty, unless treated with female hormones, these findings may be present:Pubic hair is often present and normal. Breast development may not occur. Menstrual periods are absent or very light. Vaginal dryness and pain with intercourse are common. Infertility.Sometimes, the diagnosis of Turner syndrome may not be made until adulthood. It may be discovered because a woman has very light or no menstrual periods and problems becoming pregnant. Exams and Tests Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if: A chromosome analysis is done during prenatal testing. A cystic hygroma is a growth that often occurs in the head and neck area. This finding may be seen on ultrasound during the pregnancy and leads to further testing.The health care provider will perform a physical exam and look for signs of atypical development. Infants with Turner syndrome often have swollen hands and feet.The following tests may be performed:Blood hormone levels (luteinizing hormone, estrogen, and follicle-stimulating hormone) Luteinizing hormoneThe LH blood test measures the amount of luteinizing hormone (LH) in blood. LH is a hormone released by the pituitary gland, located on the undersid...Read Article Now Book Mark Article Follicle-stimulating hormoneThe follicle stimulating hormone (FSH) blood test measures the level of FSH in blood. FSH is a hormone released by the pituitary gland, located on t...Read Article Now Book Mark Article Echocardiogram EchocardiogramAn echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...ImageRead Article Now Book Mark Article Karyotyping KaryotypingKaryotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or diseas...ImageRead Article Now Book Mark Article MRI of the chest MRI of the chestA chest MRI (magnetic resonance imaging) scan is an imaging test that uses powerful magnetic fields and radio waves to create pictures of the chest (...ImageRead Article Now Book Mark Article Ultrasound of reproductive organs and kidneys UltrasoundUltrasound uses high-frequency sound waves to make images of organs and structures inside the body.ImageRead Article Now Book Mark Article Pelvic exam Other tests that may be done periodically include:Blood pressure screening Thyroid checks Blood tests for lipids and glucose Hearing screening Hearing screeningAn audiometry exam tests your ability to hear sounds. Sounds vary, based on their loudness (intensity) and the speed of sound wave vibrations (tone)...ImageRead Article Now Book Mark Article Eye exam Bone density testingBone density testingA bone mineral density (BMD) test measures how much calcium and other types of minerals are in an area of your bone. This test helps your health care...ImageRead Article Now Book Mark Article Treatment Growth hormone may help a child with Turner syndrome grow taller. Estrogen and other hormones are often started when the girl is 12 or 13 years old. These help trigger the growth of breasts, pubic hair, other sexual characteristics, and growth in height. Estrogen therapy is continued through life until the age of menopause.Women with Turner syndrome who wish to become pregnant may consider using a donor egg.Women with Turner syndrome may need care or monitoring for the following health problems:Keloid formation Hearing loss High blood pressure Diabetes Thinning of the bones (osteoporosis) Widening of the aorta and narrowing of the aortic valve Cataracts ObesityOther issues may include:Weight management Exercise Transition to adulthood Stress and depression over changes Outlook (Prognosis) Those with Turner syndrome can have a normal life when carefully monitored by their provider. Possible Complications Other health problems may include:Thyroiditis ThyroiditisChronic thyroiditis is caused by a reaction of the immune system against the thyroid gland. It often results in reduced thyroid function (hypothyroi...ImageRead Article Now Book Mark Article Kidney problems Middle ear infections ScoliosisScoliosisScoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...ImageRead Article Now Book Mark Article Prevention There is no known way to prevent Turner syndrome.Open ReferencesReferencesBacino CA, Lee B. Cytogenetics In: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 98.Sorbara JC, Wherrett DK. Disorders of sex development. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 89.Styne DM. Physiology and disorders of puberty. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 26.AllVideoImagesTogKaryotyping - illustration Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. The test can be performed on a sample of blood, bone marrow, amniotic fluid, or placental tissue.KaryotypingillustrationKaryotyping - illustration Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. The test can be performed on a sample of blood, bone marrow, amniotic fluid, or placental tissue.Karyotypingillustration Tests for Turner syndrome Quadruple screen testRelated Information Infertility(Condition)Infertility in women(In-Depth) Review Date: 11/1/2021 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.