Disease or Syndrome
Turner's syndrome
Turn·er's syn·drome
Subclass of:
Sex Chromosome Disorders of Sex Development;
Congenital Heart Defects;
Gonadal Dysgenesis
Also called:
Gonadal Dysgenesis; Monosomy X
Definitions related to turner syndrome:
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A chromosomal abnormality occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes.ACC/AHA Clinical Data TerminologyAmerican College of Cardiology and American Heart Association , 2020
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A condition caused by absence of part or all of the second sex chromosome in an individual with female phenotype, resulting in a variable constellation of physical and functional anomalies. Characteristic clinical features may include, but are not limited to, short stature, premature ovarian failure, cardiac anomalies, renal anomalies, skeletal variations, and hearing impairment.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility.NCIU.S. National Cancer Institute, 2021
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A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2025
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Turner syndrome is a genetic disorder that affects a girl's development and appearance. It can also cause health problems such as infertility and heart problems. Turner syndrome happens because of a problem with a chromosome. Chromosomes are tiny "packages" in your cells that contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works. Normally, girls receive one X chromosome from each parent. Turner syndrome happens when one of the X chromosomes is partially or completely missing. Turner syndrome can cause many different symptoms. The symptoms may be mild for some people. But for others, Turner syndrome can cause serious health problems. Some of the symptoms of Turner syndrome affect a person's appearance. Most people with Turner syndrome are shorter than average. They may also have physical features such as: A neck that is short and has extra skin (a "webbed" neck); A low hairline in the back; Low-set ears; Swollen hands and feet. People with Turner syndrome may be born with heart and kidney defects. They usually don't have typical sexual development and are infertile. They are also at risk for other health problems such as high blood pressure, type 2 diabetes, osteoporosis, and thyroid problems. Health care providers diagnose Turner syndrome based on symptoms and a genetic blood test called a karyotype test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are treatments for some of the symptoms: If they are started in early childhood, hormone injections can often increase adult height by a few inches; Estrogen replacement therapy (ERT) can help start sexual development. It also protects against bone loss; Assisted reproduction technologies can help some women with Turner syndrome get pregnant. People who have Turner syndrome need regular health checks. It's also important for them to have a care team that includes specialists who can treat the health problems caused by Turner syndrome. NIH: National Institute of Child Health and Human DevelopmentMedlinePlus GeneticsU.S. National Library of Medicine, 2021
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Turner syndrome is a genetic disorder that affects a girl's development and appearance. It can also cause health problems such as infertility and heart problems. Turner syndrome happens because of a problem with a chromosome. Chromosomes are tiny "packages" in your cells that contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works. Normally, girls receive one X chromosome from each parent. Turner syndrome happens when one of the X chromosomes is partially or completely missing. Turner syndrome can cause many different symptoms. The symptoms may be mild for some people. But for others, Turner syndrome can cause serious health problems. Some of the symptoms of Turner syndrome affect a person's appearance. Most people with Turner syndrome are shorter than average. They may also have physical features such as: A neck that is short and has extra skin (a "webbed" neck); A low hairline in the back; Low-set ears; Swollen hands and feet. People with Turner syndrome may be born with heart and kidney defects. They usually don't have typical sexual development and are infertile. They are also at risk for other health problems such as high blood pressure, type 2 diabetes, osteoporosis, and thyroid problems. Health care providers diagnose Turner syndrome based on symptoms and a genetic blood test called a karyotype test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are treatments for some of the symptoms: If they are started in early childhood, hormone injections can often increase adult height by a few inches; Estrogen replacement therapy (ERT) can help start sexual development. It also protects against bone loss; Assisted reproduction technologies can help some women with Turner syndrome get pregnant. People who have Turner syndrome need regular health checks. It's also important for them to have a care team that includes specialists who can treat the health problems caused by Turner syndrome. NIH: National Institute of Child Health and Human DevelopmentMedlinePlusU.S. National Library of Medicine, 2025
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(turner's syndrome) Genetic disease that produces sterile females due to monosomy for X chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples.CRISP ThesaurusNational Institutes of Health, 2006
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In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis. Treatment depends on manifestations and may include surgery for cardiac anomalies and often growth hormone therapy for short stature and estrogen...Merck & Co., Inc., 2025
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In 1938, Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities. More than 95% of adult women with Turner syndrome exhibit short stature and infertility.WebMD, 2025
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Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Mayo Foundation for Medical Education and Research, 2025
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Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell, and males have one X and one Y chromosome). Signs...National Center for Advancing Translational Sciences
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A chromosomal disorder involving a complete or partial absence of the second sex chromosome in phenotypic females, with characteristic features such as short stature and premature ovarian failure.Athenahealth, Inc., 2019
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Turner syndrome, relatively uncommon sex-chromosome disorder that causes aberrant sexual development in human females. Turner syndrome occurs when one sex chromosome is deleted, so that instead of the normal 46 chromosomes, of which two are sex chromosomes (XX in females and XY in males), the...Encyclopedia Britannica, Inc., 2025
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