Postmortem diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia: medico-legal issues

Abstract

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders due to decreased activity of enzymes necessary for cortisol biosynthesis. Each of the CAH disorders represents a clinical spectrum which reflects the consequence of a specific mutation. The Salt Wasting (SW) form of CAH due to 21-hydroxylase deficiency (21-OHD) is a life-threatening disease when untreated. It is easily diagnosed with newborn screening. Early detection of the defect prevents severe complications and an adrenal crisis that often leads to death. The authors report a case of a 20-day-old male infant, seemingly in good health, who died suddenly despite early cardiopulmonary resuscitation. The forensic autopsy showed the presence of enlarged adrenal glands. Analysis of a blood spot sample using tandem mass spectrometry revealed high serum levels of 17 hydroxyprogesterone (17-OHP), consistent of 21-OHD. The cause of death was a hypovolemic shock heart failure due to dehydration, caused by 21-OHD CAH. The report highlights the importance of extensive newborn screenings that would have prevented this death. The case evokes two relevant medico-legal issues, firstly for the hospital where the child was born, due to the lack of adequate information about the limited and inhomogeneous screening panels routinely adopted by different hospitals. Secondly, for suspicious clinical signs appearing after the discharge from hospital that could have been neglected by the pediatrician.