Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia (original) (raw)

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1Department of Pediatrics (B.Y.B., C.J.K., W.L.M.), University of California, San Francisco, California 94143

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2University College London Institute of Child Health and Department of Medicine (L.L., J.C.A.), University College London, London WC1N 1EH, United Kingdom

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1Department of Pediatrics (B.Y.B., C.J.K., W.L.M.), University of California, San Francisco, California 94143

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3Endocrinology (J.R.), National Institute of Child Health, Karachi 75520, Pakistan

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4Department of Pediatrics (C.P.S.), East Lancashire Hospitals National Health Service Trust, Blackburn BB2 3HH, United Kingdom

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1Department of Pediatrics (B.Y.B., C.J.K., W.L.M.), University of California, San Francisco, California 94143

*Address all correspondence and requests for reprints to: Dr. John C. Achermann, Biochemistry, Endocrinology, and Metabolism, University College London Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom. or to Professor Walter L. Miller, Department of Pediatrics, Box 0978, University of California, San Francisco, California 94143-0978.

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2University College London Institute of Child Health and Department of Medicine (L.L., J.C.A.), University College London, London WC1N 1EH, United Kingdom

*Address all correspondence and requests for reprints to: Dr. John C. Achermann, Biochemistry, Endocrinology, and Metabolism, University College London Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom. or to Professor Walter L. Miller, Department of Pediatrics, Box 0978, University of California, San Francisco, California 94143-0978.

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Published:

01 December 2006

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Bo Y. Baker, Lin Lin, Chan J. Kim, Jamal Raza, Claire P. Smith, Walter L. Miller, John C. Achermann, 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, Volume 91, Issue 12, 1 December 2006, Pages 4781–4785, https://doi.org/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 ∼20% of wild-type activity.

Conclusions: These patients define a new disorder, nonclassic lipoid congenital adrenal hyperplasia, and represent a new cause of nonautoimmune Addison disease (primary adrenal failure).

Copyright © 2006 by The Endocrine Society

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