Baker, BY; Lin, L; Kim, CJ; Raza, J; Smith, CP; Miller, WL; Achermann, JC; (2006) Nonclassic congenital lipoid adrenal hyperplasia: A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. The Journal of Clinical Endocrinology & Metabolism , 91 (12) 4781 - 4785. 10.1210/jc.2006-1565.

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Abstract

Context: Lipoid congenital adrenal hyperplasia 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: The objective of this study was to investigate whether nonclassic forms of this condition exist.Patients and 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 similar to 20% of wild-type activity.Conclusions: These patients define a new disorder, nonclassic lipoid congenital adrenal hyperplasia, and represent a new cause of non-autoimmune Addison disease (primary adrenal failure).

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