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Genetic Approaches to Unraveling Reproductive Disorders: Examples of Bedside to Bench Research in the Genomic Era

Reproductive Endocrine Unit and Harvard-Wide Reproductive Endocrine Sciences Center and National Center for Infertility Research, Massachusetts General Hospital, Boston, Massachusetts 02114

Correspondence: Address all correspondence and requests for reprints to: Stephanie Seminara, M.D., Reproductive Endocrine Unit, Bartlett Hall Extension 505, Fruit Street, Boston, Massachusetts 02114. E-mail: seminara.stephanie{at}mgh.harvard.edu

Despite the rapid advances in medical genetics, many clinicians and investigators remain unaware of the general approaches that can be used to map genes. Although there are specific challenges to using genetic approaches in reproductive medicine, the following report summarizes mapping efforts for three diseases: adrenal hypoplasia congenita, hypergonadotropic ovarian failure, and polycystic ovary syndrome. The themes of rare and novel phenotypes, genetically homogenous populations, and genotype/phenotype correlations are emphasized.

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