Inherited Adrenal Hypoplasia: Not Just for Kids!

Lin Lin; John C. Achermann


Clin Endocrinol. 2004;60(5) 

In This Article


The diagnosis and treatment of inherited forms of adrenal hypoplasia has, in the past, been very much within the realm of the paediatric endocrinologist. However, it is now becoming clear that individuals with this condition have specific needs that must be addressed within the adult clinic, and milder forms of adrenal hypoplasia may only present in later life.

In this review, we will provide an overview of the genetics of the inherited forms of adrenal hypoplasia, and highlight issues that might need to be addressed in the transitional and long-term management of patients with these conditions. We will show how knowledge of the underlying genetics can have important implications for counselling, for identifying associated features and for planning long-term care. Given the scope of this article, we will not cover the long-term effects of steroid biosynthetic defects, metabolic disorders (e.g. adrenoleukodystrophy) or other forms of adrenal destruction (e.g. autoimmune endocrinopathy; Vaidya et al., 2000; White & Speiser, 2000), which obviously have important management issues into adulthood too.


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