Swyer syndrome: A rare disorder where a female has all the normal external femal characteristics but has non-functioning gonads. This means that none sex hormones needed for puberty are produced. More detailed information about the symptoms, causes, and treatments of Swyer syndrome is available below.
See full list of 10 symptoms of Swyer syndrome
Read more about complications of Swyer syndrome.
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Prognosis for Swyer syndrome: good response to treatment
More about prognosis of Swyer syndrome
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This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilateral streak or dysgenetic gonads, and a 46,XY karyotype. This XY gonadal dysgenesis is a heterogenous condition with variant forms resulting from a structural abnormality on Y chromosome, a mutation in SRY gene or a mutation in autosomal genes. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XX karyotype (GONADAL DYSGENESIS, 46,XX). - (Source - Diseases Database)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Swyer syndrome as a "rare disease".
Source - Orphanet
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