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This version published online on September 12, 2006
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2006-1565
A more recent version of this article appeared on December 1, 2006
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Submitted on July 18, 2006
Accepted on August 31, 2006

Non-Classic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein With Very Late Presentation and Normal Male Genitalia

Bo Yang Baker, Lin Lin, Chan Jong Kim, Jamal Raza, Claire P. Smith, Walter L. Miller, and John C. Achermann*

Department of Pediatrics (B.Y.B., C.J.K., W.L.M.), University of California, San Francisco, CA 94143; UCL Institute of Child Health & Department of Medicine (L.L., J.C.A.), University College London, London WC1N 1EH, UK; Endocrinology (J.R.), National Institute of Child Health, Karachi, Pakistan; Department of Paediatrics (C.P.S.), East Lancashire Hospitals NHS Trust, Blackburn BB2 3HH, UK

* To whom correspondence should be addressed. E-mail: j.achermann{at}ich.ucl.ac.uk.

Context: Congenital lipoid adrenal hyperplasia (lipoid CAH) is a severe disorder of adrenal and gonadal steroidogenesis caused by mutations in the steroidogenic acute regulatory protein (StAR). Affected children typically present with life-threatening adrenal insufficiency in early infancy due to a failure of glucocorticoid (cortisol) and mineralocorticoid (aldosterone) biosynthesis, and 46,XY genetic males have complete lack of androgenization and appear phenotypically female due to impaired testicular androgen secretion in utero. Objective: To investigate whether non-classic forms of this condition exist. Patients & Methods: Sequence analysis of the gene encoding StAR was undertaken in three children from two families who presented with primary adrenal insufficiency at 2-4 yr of age; the males had normal genital development. Identified mutants were tested in a series of biochemical assays. Results: DNA sequencing identified homozygous StAR mutations Val187Met and Arg188Cys in these two families. Functional studies of StAR activity in cells and in vitro, and cholesterol-binding assays showed these mutants retained ~20% of wild-type activity. Conclusions: These patients define a new disorder, "non-classic lipoid CAH", and represent a new cause of non-autoimmune Addison disease (primary adrenal failure).




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