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R C Wilson, M D Harbison, Z S Krozowski, J W Funder, C H Shackleton, H M Hanauske-Abel, J Q Wei, J Hertecant, A Moran, R E Neiberger, Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess, The Journal of Clinical Endocrinology & Metabolism, Volume 80, Issue 11, 1 November 1995, Pages 3145–3150, https://doi.org/10.1210/jcem.80.11.7593417
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Abstract
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.