Prenatal and postnatal imaging techniques in the evaluation of disorders of sex development

Semin Pediatr Surg. 2019 Oct;28(5):150839. doi: 10.1016/j.sempedsurg.2019.150839. Epub 2019 Sep 24.

Abstract

Imaging of the reproductive tract is challenging and requires a general knowledge of congenital variations in anatomy. The anatomy of the developing fetus, whether a male phenotype or female phenotype, is also a dynamic process with many changes occurring during gestation. Families may ask details about the genitalia during prenatal imaging and when variations in what is thought to be normal are present, further investigation is sometimes needed to make sense of what is seen. This overview will describe categories of disorders of sex development (DSD), whether chromosomal or structural or both, and the current state of imaging of these anomalies.

Keywords: Disorders of sex development; Dynamic imaging; Prenatal imaging; Reproductive anomalies.

Publication types

  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnostic imaging
  • Anus, Imperforate / diagnostic imaging
  • Bladder Exstrophy / diagnostic imaging
  • Cloaca / abnormalities
  • Diagnosis, Differential
  • Disorders of Sex Development / diagnostic imaging*
  • Female
  • Fetus / diagnostic imaging*
  • Hernia, Umbilical / diagnostic imaging
  • Humans
  • Hydrocolpos / diagnostic imaging
  • Hypospadias / diagnostic imaging
  • Infant, Newborn
  • Magnetic Resonance Imaging*
  • Male
  • Pregnancy
  • Scoliosis / diagnostic imaging
  • Ultrasonography, Prenatal*
  • Urogenital Abnormalities / diagnostic imaging

Supplementary concepts

  • Omphalocele exstrophy imperforate anus