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Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > Turner Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > Turner Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > Turner Syndrome
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Gonadal Dysgenesis > Turner Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Gonadal Dysgenesis > Turner Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Gonadal Dysgenesis > Turner Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Gonadal Dysgenesis > Turner Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Sex Chromosome Disorders > Sex Chromosome Disorders of Sex Development > Turner Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Sex Chromosome Disorders > Sex Chromosome Disorders of Sex Development > Turner Syndrome
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Turner Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Turner Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Turner Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Turner Syndrome

Preferred term

Turner Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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. This syndrome that was originally observed by Ullrich, and designated as identical to TURNER SYNDROME, related the webbing of the neck, loose skin and other anomalies of the syndrome to accumulation of fluid in the embryo starting at the head and dispersing to the extremities (as observed by Bonnevie in mice). Commonly observed at birth in Turner Syndrome and NOONAN SYNDROME; EDEMA of the extremities usually recedes by one year and is an early sign of Turner syndrome, especially in female neonates.

Broader concept

Related concepts

Entry terms

  • Turner's Syndrome
  • Ullrich-Turner Syndrome

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-BTSLZ9ZF-N

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RDF/XML TURTLE JSON-LD Created 1/1/99, last modified 6/30/21