Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?

Am J Med Genet A. 2005 Jan 30;132A(3):314-7. doi: 10.1002/ajmg.a.30286.

Abstract

The mechanisms by which maternal diabetes causes malformations in the offspring have yet to be elucidated. The purpose of this report is twofold: first, to describe three male infants born with multiple congenital anomalies and megalourethra, a defect which has not been previously reported in infants of women with diabetes; and second, to indicate that the defects seen in association with megalourethra in these three infants are similar to those seen as a consequence of abnormalities in sonic hedgehog, suggesting that maternal diabetes may affect sonic hedgehog expression in susceptible tissues during critical stages of development.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Diabetes, Gestational / complications*
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Pancreas / abnormalities
  • Penis / abnormalities
  • Pregnancy
  • Urethra / abnormalities*