{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:49:38Z","timestamp":1791856178144,"version":"4.3.4"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1996,8]]},"abstract":"<jats:p>Gourmelen M. Saint-Jacques I, Morineau G. Soliman H, Julien R, Fiet J. 11\u03b2-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial hypertension. Diagnosis and therapeutic approach in two young brothers. Eur J Endocrinol 1996;135:238\u201344. ISSN 0804\u20134643<\/jats:p>\n        <jats:p>We report the clinical history and results of endocrine investigations in two brothers born to consanguineous parents, who presented with hypokalemia and arterial hypertension when they were aged 2 and 6 years. The hormonal serum assay results, including extremely low values for aldosterone and plasma renin activity, favored the existence of apparent mineralocorticoid excess. A diagnosis of 11\u03b2-hydroxysteroid dehydrogenase (11\u03b2-HSD) deficiency was made, based on assays of the hydrogenated urinary metabolites of cortisol and cortisone, as well as of corticosterone and dehydrocorticosterone. Indeed we found a very low rate of urinary elimination of cortisone metabolites: tetrahydrogenated cortisone was reduced to between 0.10 and 30 \u03bcmol\/24 h, which is 15\u2013100 times lower than the normal rate; hexahydrogenated cortolones a and \u03b2 were found to be 7-to 20-fold lower than normal levels; and the 11-keto-17-ketosteroid derivatives of cortisone were also reduced. Urinary elimination of the cortisol-reduced metabolites 5\u03b2- and 5\u03b1-tetrahydrogenated cortisol were slightly reduced or normal. These results argue in favor of a deficit in the enzyme 11\u03b2-HSD, which oxidizes cortisol into cortisone. A moderate defect in the conversion of cortisol into 5\u03b2-THF compared to normal conversion into 5\u03b1-THF was also found. With respect to corticosterone metabolism, we demonstrated the presence of a defect in the oxidation of that steroid into dehydrocorticosterone, also due to the deficit in 11\u03b2-HSD. Arterial hypertension and hypokalemia were corrected by treatment with dexamethasone, concomitantly with correction of the low aldosterone and plasma renin activity levels. On the other hand, during this treatment, urinary concentrations of the metabolites of cortisol. cortisone and corticosterone were only moderately affected.<\/jats:p>\n        <jats:p>Jean Fiet, Laboratoire de Biologie Hormonale, H\u00f4pital Saint-Louis, I Avenue Claude Vellefaux, 75475 Paris Cedex 10, France<\/jats:p>","DOI":"10.1530\/eje.0.1350238","type":"journal-article","created":{"date-parts":[[2008,12,15]],"date-time":"2008-12-15T22:12:49Z","timestamp":1229379169000},"page":"238-244","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":10,"title":["11\u03b2-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial hypertension. Diagnosis and therapeutic approach in two young brothers"],"prefix":"10.1093","volume":"135","author":[{"given":"Micheline","family":"Gourmelen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ir\u00e8ne","family":"Saint-Jacques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Morineau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hany","family":"Soliman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"Julien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Fiet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/135\/2\/eje_135_2_020.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/135\/2\/eje_135_2_020.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:22:28Z","timestamp":1676391748000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/135\/2\/238\/6755117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,8]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/eje.0.1350238","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,8]]}}}