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DeCS
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Descriptor English:
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Turner Syndrome
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Descriptor Spanish:
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Síndrome de Turner
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Descriptor Portuguese:
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Síndrome de Turner
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Synonyms English:
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Bonnevie-Ullrich Syndrome
Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, XO
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Tree Number:
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C12.706.842.309.695
C13.351.875.842.309.872
C16.131.260.800.870
C16.131.939.842.309.872
C16.320.180.800.870
C19.391.775.309.872
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Definition English:
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A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy (45,X or 45,XO), associated with the loss of a sex chromosome X or Y. Patients generally are of short stature with undifferentiated (streak) gonads, sexual infantilism (HYPOGONADISM), webbing of the neck, cubitus valgus, elevated GONADOTROPINS and decreased ESTRADIOL level in blood. Studies of Turner Syndrome and its variants have contributed significantly to the understanding of SEX DIFFERENTIATION. NOONAN SYNDROME bears similarity to this disorder; however, it also occurs in males, has normal karyotype, and is inherited as an autosomal dominant. |
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Indexing Annotation English:
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in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available
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See Related English:
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Noonan Syndrome
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History Note English:
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2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001
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Allowable Qualifiers English:
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Record Number:
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14823
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Unique Identifier:
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D014424
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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