Disorders of sex development

Best Pract Res Clin Obstet Gynaecol. 2018 Apr:48:90-102. doi: 10.1016/j.bpobgyn.2017.11.005. Epub 2017 Nov 22.


Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of molecular events that lead to male sex development. Disorders of sex development comprise a heterogeneous group of congenital conditions associated with atypical development of internal and external genitalia. These disorders are generally attributed to deviations from the typical progression of sex development. Disorders of sex development can be classified into several categories including chromosomal, gonadal, and anatomic abnormalities. Genetic tools such as microarray analyses and next-generation sequencing techniques have identified novel genetic variants among patients with disorders of sexual development. Most importantly, patient management needs to be individualized, especially for decisions related to sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation.

Keywords: Ambiguous genitalia; Congenital adrenal hyperplasia; Disorders of sex development; Urogenital anomalies.

Publication types

  • Review

MeSH terms

  • Child
  • Disease Management
  • Disorders of Sex Development / diagnosis
  • Disorders of Sex Development / genetics*
  • Female
  • Humans
  • Male