Hormonal abnormalities leading to disorders of sexual development

Abstract

Normal human sexual development occurs in a highly regulated process that comprises three distinct phases: establishment of chromosomal sex, development of the sex-specific gonads and phenotypic differentiation of the internal ductal anatomy and external genitalia. The latter two phases are mediated by specific hormonal effector molecules, including anti-Müllerian hormone and testosterone, and their dysregulation often leads to the development of a phenotypic disorder of sexual differentiation. This review describes the hormonal mediators that are involved in sexual development and the disorders of sexual differentiation that arise from their dysfunction.

Keywords::

• disorders of sex development
• intersex
• hormone

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.