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Primary adrenal insufficiency

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Primary adrenal insufficiency (PAI) is uncommon in children. The most common diagnoses are congenital adrenal hyperplasia (CAH) and autoimmune Addison’s disease. A series of 103 patients has been described from Montreal (


The study included all 55 girls and 48 boys who attended one hospital department with PAI between September 1981 and September 2001. The diagnosis was 21-hydroxylase deficiency CAH for 41 girls and 31 boys (70% of the whole series). Among these, 30 girls and 29 boys had the classic form and 11 girls and two boys had the non-classic form. Of the 59 patients with the classic form 53 had salt-wasting CAH. The average age at diagnosis of the six children with simple virilising CAH was 5.8 years. One patient of each sex had 3-β-hydroxysteroid dehydrogenase deficiency.

Thirteen patients had autoimmune adrenal failure and five of these had a diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED). Four of the five had mutations at the AIRE locus (the fifth was not tested). Glucocorticoid or mineralocorticoid deficiency was diagnosed at between 5.4 and 13.6 years in patients with APECED and at between 7.8 and 16.3 years in patients with non-APECED autoimmune PAI. Other diagnoses included adrenoleukodystrophy (4 boys), Wolman disease (3), triple A syndrome (1), Zellweger disease (1), X-linked CAH (1), and unexplained PAI (6).

An algorithm for the diagnosis of children with PAI is included in the paper.