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Swyer syndrome

Abstract

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NORD is very grateful to Harry Ostrer, MD, Director, Human Genetics Program, Professor of Pediatrics, Pathology and Medicine, New York University School of Medicine, for assistance in the preparation of this report.

Synonyms of Swyer syndrome

  • 46, XY CGD
  • 46, XY complete gonadal dysgenesis
  • 46, XY pure gonadal dysgenesis
  • gonadal dysgenesis, XY female type

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Swyer syndrome is a rare disorder characterized by the failure of the sex glands (i.e., testicles or ovaries) to develop. Swyer syndrome is classified as a disorder of sex development (DSD), which encompasses any disorder in which chromosomal, gonadal or anatomic sex development is abnormal. Girls with Swyer syndrome have an XY chromosomal makeup (as boys normally do) instead of an XX chromosomal makeup (as girls normally do). Despite having the XY chromosomal makeup, girls with Swyer syndrome look female and have functional female genitalia and structures including a vagina, uterus and fallopian tubes.

Girls with Swyer syndrome lack sex glands (ovaries). Instead of sex glands, women with Swyer syndrome have "gonadal streaks", in which the ovaries do not develop properly (aplasia) and are replaced by functionless scar (fibrous) tissue. Because they lack ovaries, girls with Swyer syndrome do not produce sex hormones and will not undergo puberty (unless treated with hormone replacement therapy). Mutations in several different genes are known to cause Swyer syndrome. This condition can occur as the result of a new gene mutation or can be inherited in an autosomal dominant, autosomal recessive, X-linked or Y-linked manner.

Organizations related to Swyer syndrome

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