{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:10:47Z","timestamp":1745554247476,"version":"3.40.4"},"reference-count":4,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2003]]},"abstract":"<jats:p>&lt;i&gt;Objective:&lt;\/i&gt; We present the 1st case of prepubertal hyperandrogenism because of a defect in the conversion of cortisone (E) to cortisol (F) by hepatic11\u03b2-hydroxysteroid dehydrogenase type 1. &lt;i&gt;Methods and Results:&lt;\/i&gt; Clinical and anthropometric data were obtained. Serum androgens and gonadotropins with luteinizing hormone releasing hormone stimulation test, dexamethasone suppression test, and corticotropin-releasing hormone stimulation test were evaluated. Adrenal imaging and urinary steroid profiling by gas chromatography\/mass spectrometry were employed. A 6.9-year-old boy presented with precocious pubarche, height (+2.6 SD), accelerated bone age (11.5 years), and Tanner stage 2 pubic hair and genitalia. Serum androgen levels were elevated and dexamethasone suppressible. Serum F was normal, but the E concentration was increased. Central precocious puberty and congenital adrenal hyperplasia were excluded. The excretion of androgen metabolites was moderately increased, but a highly increased tetrahydrocortisone (THE) and a diminished tetrahydrocortisol (THF + allo-THF) excretion was found with a [THF + allo-THF\/ THE] ratio of 0.032 (normal controls 1.05 \u00b1 0.17). The corticotropin-releasing hormone stimulation test showed an exaggerated adrenocorticotropic hormone response, suggesting a relative deficiency of F. Two months of hydrocortisone treatment (17.5 mg daily) failed to suppress androgens adequately. Treatment with dexamethasone (0.375 mg\/daily) resulted in androgen suppression. &lt;i&gt;Conclusions:&lt;\/i&gt; In the case of precocious pubarche and accelerated growth, the diagnosis of 11\u03b2-hydroxysteroid dehydrogenase type 1 deficiency (\u2018apparent cortisone reductase deficiency\u2019) should be considered. The diagnosis is based on determinations of urinary steroid metabolites.<\/jats:p>","DOI":"10.1159\/000069326","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T12:11:24Z","timestamp":1050408684000},"page":"205-210","source":"Crossref","is-referenced-by-count":11,"title":["11\u03b2-Hydroxysteroid Dehydrogenase Type 1 Deficiency (\u2018Apparent Cortisone Reductase Deficiency\u2019) in a 6-Year-Old Boy"],"prefix":"10.1159","volume":"59","author":[{"given":"Ewa M.","family":"Ma\u0142unowicz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz E.","family":"Romer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Urban","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Artur","family":"Bossowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2003,3,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-4731(85)90451-0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.10.3570"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.26.14924"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.5.1598"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/69326","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/69326","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:43:40Z","timestamp":1745466220000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000069326"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003]]},"references-count":4,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2003,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000069326","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2003]]}}}