Disorders of Gonadal Development

Phoebe Dewing; Pascal Bernard; Eric Vilain

doi:10.1055/s-2002-35383

Seminars in Reproductive Medicine, Table of Contents

Semin Reprod Med 2002; 20(3): 189-198
DOI: 10.1055/s-2002-35383

Disorders of Gonadal Development

Phoebe Dewing¹ , Pascal Bernard¹ , Eric Vilain^1,2

¹Department of Human Genetics, UCLA School of Medicine, Los Angeles, California
²Department of Pediatrics, UCLA School of Medicine, Los Angeles, California

Abstract

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

Full Text

References

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