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Evidence for Endocrinological Abnormalities in Heterozygotes for Adrenal 11ß-Hydroxylase Deficiency of a Family with the R448H Mutation in the CYP11B1 Gene¹

Division of Pediatric Endocrinology, Department of Pediatrics, Christian-Albrechts University, Kiel, Germany

Address all correspondence and requests for reprints to: W. G. Sippell, M.D., Division of Pediatric Endocrinology, Department of Pediatrics, Universitäts-Kinderklinik, Schwanenweg 20, D-24105 Kiel, Germany.

In about 5% of cases of classical congenital adrenal hyperplasia, steroid 11ß-hydroxylase deficiency is the underlying defect. In two publications, no biochemical abnormalities have been reported in obligate heterozygotes for 11ß-hydroxylase deficiency. We found the typical plasma steroid pattern of 11ß-hydroxylase deficiency and identified the R448H mutation in the CYP11B1 gene in a boy presenting with pseudoprecocious puberty at age 2 yr. Both parents and an older sister were genotyped and were heterozygous carriers for the R448H mutation in CYP11B1. In contrast to the data reported in the literature, we found increased responses of plasma 11-deoxycortisol and 11-deoxycorticosterone in the short term ACTH test in the three family members heterozygous for the R448H mutation.