Background: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia.
Objective and hypotheses: We aimed to identify causative mutations in cases presenting with adrenal failure during early infancy.
Method: Consecutive cases with adrenal failure during early infancy were studied. The coding regions of the StAR gene (uc003xkv.1) is PCR-amplified and automatedly sequenced.
Results: A homozygous state consisting of p.S13P was detected in a patient. Functional studies of the new mutations are ongoing.
Conclusion: The novel mutation of p.S13P cause early infancy adrenal insufficiency and complete sex reversal in the 46,XY case.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology