EARLY GROWTH IS NOT INCREASED IN UNTREATED MODERATELY SEVERE 21-HYDROXYLASE DEFICIENCY

The pretreatment growth of 1 British and 14 Swedish children with late (2-7 years) diagnosis of 21-hydroxylase deficiency (210HD) was studie d. The latter group included all patients diagnosed in Sweden after 19 86. Twelve had mutations of the 21-hydroxylase gene that an generally associated with moderately severe (''simple virilizing'') forms of 210 HD, one had a severe (''salt-losing'') and one a mild (''non-classical '') form. The British girl was followed from 4 months of age. She had grossly elevated levels of 17 alpha-hydroxyprogesterone, androstenedio ne and testosterone in blood, but her parents refused treatment until she was 4 years of age. None of the 1.5 children showed any significan t increase in growth or progress of virilization until after 18 months of age. These observations indicate that growth during the first 1.5 years is not very sensitive to androgens. Thus glucocorticoid replacem ent during the first year of life should be kept to a minimum to avoid over-treatment.