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Over a three-and-a-half year period, 26 children with precocious pubarche or other forms of sexual precocity were studied. All had plasma steroid patterns analyzed, in most cases both before and after stimulation with ACTH. 17 of the children had elevation of the delta 5-steroids dehydroepiandrosterone and 17-OH-pregnenolone and their individual results are presented. Five of these children were diagnosed with probable late-onset 3 beta-HSD deficiency. The difficulties in differentiating this entity from idiopathic premature adrenarche are emphasized.

journal of pediatric endocrinology and metabolism

Non-Classical 3ß-Hydroxysteroid Dehydrogenase Deficiency in Children in Central Iowa. Difficulties in Differentiating this Entity from Cases of Precocious Adrenarche Without an Adrenal Enzyme Defect