This short report describes the identification of 4 children with 21-hydroxyalse deficiency with defects in the CYP21 gene who presented with growth hormone deficiency between ages 2.1 and 12.9 years of age. These children were receiving steroid replacement at traditional doses of hydrocortisone (12 – 15 mg/m²/d) and fludrocortisone (100 – 150 mcg/m²/d) and were compliant with their treatment. Neuroimaging in two of the children revealed small, but present pituitary glands.  All four grew well with growth hormone (GH) therapy. The authors speculate that these children may have sustained pituitary damage during salt-losing crises with associated hypotension and suggest that GH deficiency be considered in children with 21 hydroxylase deficiency who are growing poorly on traditional glucocorticoid and mineralocorticoid replacement doses.

Tirendi A, et al.  Eur J Pedaitr 2002;161:556-558.

Editor’s Comment:  Unfortunately these authors do not present the denominator. How many children out of a population of what size with 21 hydroxylase deficiency and poor growth, is the question to be answered. How many children with adrenal crises have poor growth?  Despite these obvious and important questions, the take home message remains clear. Twenty-one-hydroxylase deficiency need not occur as an isolated disorder. Children with 21-hydroxylase deficiency, as pointed out in the manuscript, are not necessarily short. It is important to carefully consider all possible causes when evaluating growth failure in any child.

William L. Clarke, MD