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Health professionals Turner`s Syndrome Management Diagnosis
Diagnosis
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The diagnosis of Turner’s syndrome is based upon the presence of characteristic physical features in phenotypic females associated with complete/ partial absence of an X chromosome. Individuals without the characteristic clinical features despite having a 45X karyotype are not considered to have Turner’s syndrome.
The diagnosis should be considered in any female with unexplained growth failure/short stature, pubertal delay, features of the Turner’s syndrome phenotype (Table 1) or primary or secondary amenorrhoea with elevated FSH levels.
Diagnosis is made on the basis of karyotype (which should include probing for Y chromosome material). The presence of Y chromosome material may lead to the development of gonadoblastoma (reported risk varies from 7% to >30%) and referral for consideration of gonadectomy is warranted.
Table 1: Clinical Features of Turner’s syndrome
Feature |
| Short stature/ growth retardation |
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Cardiovascular
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Reproductive
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Kidney
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Endocrine dysfunction
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Ears
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Eyes
|
|
Gastrointestinal dysfunction
|
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Physical appearance
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Skeletal
|
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Skin
|
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Psychosocial
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Content created June 04, 2007
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