Abnormalities of the external genitalia

Clin Perinatol. 2014 Sep;41(3):709-24. doi: 10.1016/j.clp.2014.05.016. Epub 2014 Jul 23.


Abnormalities of the external genitalia span the spectrum from subtle findings of limited clinical significance to profound anomalies that call into question such essential questions as sex determination. In addition, missing a diagnosis of congenital adrenal hyperplasia in a newborn female child with virilized external genitalia can result in near-term mortality, whereas a large inguinal hernia could present rapidly with incarceration if undetected. To that end, this article seeks to present a survey of commonly encountered genital abnormalities while highlighting those scenarios that require multidisciplinary interventions.

Keywords: External genitalia; Genital malformations; Hydrocele; Inguinal hernia; Penile anomalies; Scrotal anomalies.

Publication types

  • Review

MeSH terms

  • Disorders of Sex Development* / diagnosis
  • Disorders of Sex Development* / epidemiology
  • Disorders of Sex Development* / surgery
  • Female
  • Genitalia / abnormalities*
  • Global Health
  • Humans
  • Incidence
  • Infant, Newborn
  • Male
  • Urologic Surgical Procedures / methods