Association of Hirschsprung's disease and Müllerian inhibiting substance deficiency.

An infant who presented with Hirschsprung's disease was found to also have the clinical features of persistent Müllerian duct syndrome and on testing to have Müllerian inhibiting substance deficiency. This association has not been previously reported. While this may be a coincidence, recent reports indicate intersex conditions can be associated with Hirschsprung's disease.