ENDOCRINOLOGY AND AUXOLOGY OF SIBSHIPS WITH NONCLASSICAL CONGENITAL ADRENAL-HYPERPLASIA

The symptoms, auxological characteristics, and stimulated 17-hydroxypr ogesterone (17-OHP) concentrations in a group of patients with non-cla ssical 21-hydroxylase deficiency (NCCAH) were compared with those of t heir siblings. Ten index cases consisting of nine females and one male patient aged 3-33 years and 16 siblings were studied. In the sibling group five subjects were slightly virilised and of these, two females were found to have NCCAH according to their stimulated 17-OHP concentr ations. The remaining nine siblings, who were not virilised, all had n ormal stimulated 17-OHP concentrations. Among the total NCCAH group (i ndex cases and affected siblings) eight patients had the diagnosis mad e within two years of the onset of symptoms. In four patients diagnosi s was delayed until adulthood. In seven patients investigated, bone ag e was significantly increased before treatment. The mean height and bo dy mass index Z scores of the affected patients as a total group or wh en divided according to skeletal maturity were not significantly diffe rent from either the normal mean or from their unaffected siblings. Vi rilised siblings of patients with NCCAH should have stimulated 17-OHP levels measured to exclude the disease. Patients with NCCAH do not app ear to be at risk of short adult stature despite increased bone age in childhood.