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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
- Bicuspid aortic valve
- Coarctation of the aorta
- Aortic dissection
- Hypertension
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Reproductive
- Spontaneous puberty/ menarche
- Oestrogen deficiency (primary amenorrhoea or premature menopause)
- Infertility
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Kidney
- Horseshoe kidney
- Structural renal tract abnormalities
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Endocrine dysfunction
- Impaired glucose tolerance
- Type 2 Diabetes mellitus
- Hypothyroidism
- Obesity
- Dyslipidaemia
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Ears
- Otitis media
- Hearing deficits
- deformity of external ear
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Eyes
- Epicanthic fold
- Acuity deficit/strabisimus
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Gastrointestinal dysfunction
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Physical appearance
- Micrognathia/ high arched palate
- Low posterior hairline
- Broad short neck/ webbed neck
- Broad chest with widely spaced nipples
- Cubitus valgus
- Short fourth metacarpal
- Genu valgum
- Madelung deformity
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Skeletal
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Skin
- Lymphoedema
- multiple pigmented naevi
- viteligo
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Psychosocial
- Emotional immaturity
- Unassertiveness/over compliance
- Specific learning difficulties
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Content created June 04, 2007
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Last Updated ( Monday, 10 December 2007 )
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