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Journal of Clinical Endocrinology & Metabolism, Vol 80, 3145-3150, Copyright © 1995 by Endocrine Society
ARTICLES |
RC Wilson, MD Harbison, ZS Krozowski, JW Funder, CH Shackleton, HM Hanauske- Abel, JQ Wei, J Hertecant, A Moran and RE Neiberger
Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.
Four deleterious mutations are described in the gene for HSD11B2, which encodes the type 2 isoenzyme of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD2). In seven families with one or more members affected by apparent mineralocorticoid excess, this disorder is shown to be the result of a deficiency in 11 beta HSD2. Surprisingly, the patients are all homozygous for their mutation. This results from consanguinity in two families and possibly from endogamy or a founder effect in four of the other five families. The absence of compound heterozygotes remains to be investigated.
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