Learn About Swyer Syndrome

What is the definition of Swyer Syndrome?

Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern.

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What are the causes of Swyer Syndrome?

In many individuals with Swyer syndrome, the cause is unknown. However, variants (also known as mutations) in one of several genes have been found to cause the condition in some affected individuals.

How prevalent is Swyer Syndrome?

Swyer syndrome occurs in approximately 1 in 80,000 people.

Is Swyer Syndrome an inherited disorder?

Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases often result from new (de novo) variants in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Noninherited cases can rarely result from nongenetic causes.

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What are the latest Swyer Syndrome Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
Summary: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.~Increased...
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Testosterone Treatment in a Patient With 17β-hydroxysteroid Dehydrogenase Type 3 Deficiency: an N-of-1 Study
Summary: A 38-year old women with a 46,XY disorder of sex development (DSD) based on a 17β-hydroxysteroid dehydrogenase type 3 deficiency (17β-HSD3) was seen at the department of Internal Medicine-Endocrinology at the Erasmus MC, Rotterdam, the Netherlands.~The patient presented with fatigue, concentration problems and feelings of restlessness. In the past, the patient had undergone a gonadectomy at 9 mont...
Who are the sources who wrote this article ?

Published Date: February 25, 2022Published By: National Institutes of Health

What are the Latest Advances for Swyer Syndrome?
Swyer-James Macleod Syndrome With Progressive Hyperinflation.
Summary: Swyer-James Macleod Syndrome With Progressive Hyperinflation.
Gonadal neoplastic related lesions in children with disorders of sexual development: a clinicopathological study of twelve cases.
Summary: Gonadal neoplastic related lesions in children with disorders of sexual development: a clinicopathological study of twelve cases.
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Disorders of sexual differentiation: Report of two rare cases.
Summary: Disorders of sexual differentiation: Report of two rare cases.