What is Swyer syndrome?

What is Swyer syndrome?

• 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.
• Swyer syndrome: 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

Swyer syndrome: Introduction

How serious is Swyer syndrome?

Prognosis of Swyer syndrome: good response to treatment
Complications of Swyer syndrome: see complications of Swyer syndrome

What causes Swyer syndrome?

Causes of Swyer syndrome: see causes of Swyer syndrome

What are the symptoms of Swyer syndrome?

Symptoms of Swyer syndrome: see symptoms of Swyer syndrome

Complications of Swyer syndrome: see complications of Swyer syndrome

How is it treated?

Treatments for Swyer syndrome: see treatments for Swyer syndrome

Name and Aliases of Swyer syndrome

Main name of condition: Swyer syndrome

gonadal dysgenesis (46,XY), pure gonadal dysgenesis 46, XY, Gonadal dysgenesis, XY female type

Pure gonadal dysgenesis 46, XY Source - Diseases Database

Swyer syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Swyer syndrome:

• Hypogonadism
• XY gonadal dysgenesis
• Androgen insensitivity syndrome

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