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An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency

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Abstract

Primary adrenal insufficiency (PAI) results from an inability to produce adequate amounts of steroid hormones from the adrenal cortex. The most common causes of PAI are autoimmune adrenalitis (Addison's disease), infectious diseases, adrenalectomy, neoplasia, medications, and various rare genetic syndromes and inborn errors of metabolism that typically present in childhood although late-onset presentations are becoming increasingly recognized. The prevalence of PAI in Western countries is approximately 140 cases per million, with an incidence of 4 per 1,000,000 per year. Several pitfalls in the genetic diagnosis of patients with PAI exist. In this review, we provide an in-depth discussion and overview on the inborn errors of metabolism manifesting with PAI, including genetic diagnosis, genotype-phenotype relationships and counseling of patients and their families with a focus on various enzymatic deficiencies of steroidogenesis.

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Acknowledgements

This work was supported in part by the Intramural Research Programs of the National Institutes of Health Clinical Center and The Eunice Kennedy Shriver National Institute of Child Health of Human Development (NICHD). Both authors have contributed equally to the manuscript.

Funding

This work was supported in part by the Intramural Research Programs of the National Institutes of Health Clinical Center and The Eunice Kennedy Shriver National Institute of Child Health of Human Development (NICHD).

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  1. Section on Endocrinology & Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Dr., MSC1103, Bethesda, MD, 20892, USA

    Fady Hannah-Shmouni & Constantine A. Stratakis

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  1. Fady Hannah-Shmouni
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  2. Constantine A. Stratakis
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Correspondence to Constantine A. Stratakis.

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Hannah-Shmouni, F., Stratakis, C.A. An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency. Rev Endocr Metab Disord 19, 53–67 (2018). https://doi.org/10.1007/s11154-018-9447-2

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