Endocrine Abstracts

Introduction: Adrenal hypoplasia congenita (AHC) is often difficult to differentiate from congenital adrenal hyperplasia in the early stages of life. Both can present with severe salt-losing crises, and in some cases, even sudden, unexpected death. In particular there tend to be no abnormalities of the genitilia in AHC thus delaying a possible diagnosis. In the autosomal recessive form of AHC, the absence of a recognised single gene mutation can cause significant difficulties in genetic counselling and in the immediate and longterm management of subsequent siblings.

Case Series: We present three cases where the index child died suddenly, despite resuscitation, at 62, 12 and 19 h of age respectively. The diagnosis of AHC was made on post-mortem examination, based on adrenal size and histopathological appearance. From our experiences, we discuss potential difficulties that may be encountered, and we propose a management plan for dealing with future siblings. This plan includes admitting subsequent siblings shortly after birth to the neonatal unit for monitoring and evaluation of adrenal function.

Conclusions: Children with AHC can die suddenly and unexpectedly soon after birth. It is important that we devise a plan for further siblings of all children with AHC to ensure early detection and treatment.