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Semin Reprod Med 2002; 20(3): 189-198
DOI: 10.1055/s-2002-35383
Copyright © 2002 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Disorders of Gonadal Development

Phoebe Dewing1 , Pascal Bernard1 , Eric Vilain1,2
  • 1Department of Human Genetics, UCLA School of Medicine, Los Angeles, California
  • 2Department of Pediatrics, UCLA School of Medicine, Los Angeles, California
Further Information

Publication History

Publication Date:
12 November 2002 (online)

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ABSTRACT

The molecular mechanisms of gonadal development are a complex process, which involves the tightly regulated differentiation of a bipotential embryonic gonad into either testes or ovary. Once this has occurred, the phenotypic and gonadal sex of an individual has been genetically determined. This process, however, may not always be so straightforward. By studying individuals who are sex reversed or who have ambiguous genitalia, the discovery of the handful of sex-determining genes that we know of today was made possible. It was not until recently that the transcription factors SRY, DAX1, SOX9, SF-1, and WT1 were recognized to be involved in gonadal development. Dissecting the molecular pathway of mammalian sex determination will be crucial in understanding the development of the gonads and the pathophysiology of human disorders of sex determination.

KEYWORDS

Gonads - development - sex determination - sexual ambiguity - genetics

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