Turner's syndrome


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Turner's syndrome

 [ter´nerz]
gonadal dysgenesis marked by short stature, undifferentiated (streak) gonads, and variable abnormalities that may include webbed neck, low posterior hair line, cubitus valgus, and cardiac defects. The genotype is XO (45,X) or X/XX or X/XXX mosaic, and affected individuals have a female phenotype. Information and support regarding this disorder can be obtained from the Turner's Syndrome Society, 14450 T.C. Jester, Suite 260, Houston, TX 77014, telephone 1-800-365-9944.
Typical features of Turner's syndrome. Redrawn from Damjanov, 2000.

Turner's syndrome

Etymology: Henry H. Turner, American endocrinologist, 1892-1970
a chromosomal anomaly seen in about 1 in 3000 live female births, characterized by the absence of one X chromosome; congenital ovarian failure; genital hypoplasia; cardiovascular anomalies; dwarfism; short metacarpals; "shield chest"; exostosis of tibia; and underdeveloped breasts, uterus, and vagina. Spatial disorientation and moderate degrees of learning disorders are common. Treatment includes genetic counseling, hormone therapy (estrogens, androgens, pituitary growth hormone), and often surgical correction of cardiovascular anomalies and the webbing of the neck skin. Also called Bonnevie-Ullrich syndrome, monosomy X. See also Noonan's syndrome.
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Turner's syndrome

A genetic disorder affecting females and caused by the absence of one of the two X (sex) chromosomes (monosomy). This may be the case in all body cells or only in some of them (mosaicism). Turner's syndrome features short stature, webbed skin on each side of the neck, misshapen ears, absent pubic and armpit hair and failure of development of the vagina, womb and breasts with absent menstruation. There are also abnormalities of the eyes and the bones and an area of narrowing of the largest artery in the body (coarctation of the aorta). (Henry Hubert Turner, 1892–1970, American physician).

Turner's syndrome

a human chromosomal abnormality in which the individual has 45 chromosomes, 44 AUTOSOMES and one X-CHROMOSOME.

The main features of the syndrome are (a) a female phenotype but with few or no SECONDARY SEXUAL CHARACTERS, (b) a broad shield-like chest,(c) slight mental retardation. The condition is important in understanding SEX DETERMINATION in humans since the fact that a single X-chromosome produces a female (rather than a male) suggests that normal maleness (with XY) is not due to the possession of a single X but rather to the presence of a Y-chromosome. See also KLINEFELTER'S SYNDROME.

Turner's syndrome

A disorder in women caused by an inherited chromosomal defect. This disorder inhibits sexual development and causes infertility. A symptom is absence of menstruation.

syndrome

a combination of clinical signs resulting from a single cause or so commonly occurring together as to constitute a distinct clinical picture. For specific syndromes, see under the specific name, as flat puppy syndrome, cushing's syndrome.

syndrome recognition
a preliminary stage in the making of a diagnosis based on the recognition of a particular combination of clinical signs.
testicular feminizing syndrome
see testicular feminization syndrome.
triple XXX syndrome
see xxx.
Turner's syndrome
in humans; characterized by a small uterus and underdeveloped external genitalia; deafness and lowered mentality may be present.
References in periodicals archive ?
Turner's syndrome is caused by an aberration of the X chromosome and affects around 1 in 2,500 women.
High frequency of ophthalmic morbidity in turner's syndrome population has been studied.
The current status of diagnosis and therapeutic intervention in Turner's syndrome.
Major vascular anomalies in Turner's syndrome prevalence and magnetic resonance angiographic features.
Audiological features of Turner's syndrome in adults.
Examples include albinism, congenital adrenal hyperplasia, erythropoietic protoporphyria, Fabry's disease, familial basal ganglia calcification, G6PD deficiency, Gaucher's disease, hemochromatosis, Huntington's chorea, hyperasparaginism, ichthyosis vulgaris, Kartagener's syndrome, Klinefelter's syndrome (karyotype 47,XXY), metachromatic leukodystrophy, Niemann-Pick disease, phenylketonuria, acute intermittent porphyria, Turner's syndrome, and Wilson's disease.
Flavie Boivin, from Montreal, was born with Turner's Syndrome (TS), a genetic condition that causes impaired growth and learning difficulties.
The 3 Yorks Association, made up of ex-Territorial Army members, is donating pounds 700 to the Children's Heart Surgery Fund in Leeds and pounds 500 to the Turner's Syndrome Support Society (TSSS).
Turner's syndrome (TS) is the most frequent pathology compromising the sexual chromosomes, being caused by the complete or partial absence of chromosome X.
Mum Pam, now 48, had Mosaic Turner's Syndrome,a chromosome disorder that meant she should not have been able to conceive.
Potential causes include Klinefelter's syndrome and its variants; anorchia; cryptorchidism; XY gonadal dysgenesis; Noonan's syndrome; Turner's syndrome and its variants; and XX gonadal dysgenesis.