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:
-
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
-
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
-
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.NCI ThesaurusU.S. National Cancer Institute, 2021
-
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, 2021
-
Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood. About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.MedlinePlus GeneticsU.S. National Library of Medicine, 2021
-
Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck; Low hairline in the back; Low-set ears; Swollen hands and feet. Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. NIH: National Institute of Child Health and Human DevelopmentMedlinePlusU.S. National Library of Medicine, 2021
-
(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
-
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., 2020
-
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, 2019
-
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
-
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
-
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
-
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., 2020
Return to OpenMD Medical Dictionary
> T
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.