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Oxford Textbook of Endocrinology and Diabetes$
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Oxford Textbook of Endocrinology and Diabetes (2 ed.)

Edited by John A.H. Wass, Paul M. Stewart, Stephanie A. Amiel, Melanie C. Davies

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Publisher:
Oxford University Press
Print Publication Date:
Jul 2011
Print ISBN-13:
9780199235292
Published to Oxford Medicine:
Jul 2011
DOI:
10.1093/med/9780199235292.001.1

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Disclaimer

Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up to date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or legal liability for any errors in the text or for the misuse or misapplication of material in this work. Except where otherwise stated, drug dosages and recommendations are for the non-pregnant adult who is not breastfeeding.

Contents

Familial glucocorticoid deficiency

Chapter:
Familial glucocorticoid deficiency
Author(s):

Claire Hughes,

Louise Metherell,

Adrian J.L. Clark

DOI:
10.1093/med/9780199235292.003.0611

Familial glucocorticoid deficiency (FGD), also known as isolated glucocorticoid deficiency or hereditary unresponsiveness to ACTH, is a rare, genetically heterogeneous autosomal recessive disorder. It is characterized by resistance of the adrenal cortex to ACTH, resulting in adrenal failure with isolated glucocorticoid deficiency. Mineralocorticoid production by the adrenal gland remains near normal.

Patients with FGD usually present in early childhood with symptoms relating to cortisol deficiency, including hypoglycaemia, jaundice, recurrent infection, and failure to thrive. Patients are hyperpigmented due to grossly elevated ACTH levels.

FGD was first described in 1959 by Shepard et al. who reported two sisters as having Addison’s disease without hypoaldosteronism (1). Subsequently, a number of patients were reported with an inherited form of adrenal insufficiency also without hypoaldosteronism (2–5). In contrast to Addison’s disease (see Chapter 5.9), FGD is a genetic disorder resulting from mutations in genes encoding essential proteins involved in the early response to ACTH.

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