Abstract
In human sexual development, the female phenotype represents the default pathway. Therefore, a failure of testis determination results in the development of the female phenotype, while genetic alterations resulting in partial testicular development can give rise to a wide spectrum of masculinization. In addition to defects in peptide hormones and their receptors, timing of hormonal exposure is also critical to appropriate development. Although much work remains to be done, recent advances in our knowledge have begun to unravel the molecular basis of disorders of sexual development. Consensus statements from investigators have recommended changes in the nomenclature, and further investigations have examined the role of the female and male psyche in patients with these disorders. This review focuses on the diagnosis and management of conditions related to disorders of sexual development.
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