{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T12:30:57Z","timestamp":1777897857298,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,11,25]],"date-time":"2008-11-25T00:00:00Z","timestamp":1227571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,11,25]],"date-time":"2008-11-25T00:00:00Z","timestamp":1227571200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res"],"abstract":"<jats:p>Three families with late-onset 21 -hydroxylase deficiency were studied. Homozygous females presented with symptoms of mild hyperandrogenism such as acne, hirsutism, oligomenorrhea and menometrorrhagia. A homozygous male was asymptomatic and had reached normal adult height. The diagnosis of 21 -hydroxylase deficiency was based upon markedly elevated responses of plasma 17-hydroxyprogesterone during a short (30-min) ACTH infusion test. The propositi of two of the families were diagnosed despite long-standing glucocorticoid therapy and adrenal suppression by using a prolonged (48-hour) ACTH infusion. Heterozygotes of late-onset 21-hydroxylase deficiency had mildly elevated 17-hydroxyprogesterone responses to ACTH. Late-onset 21-hydroxylase deficiency was inherited as an autosomal recessive trait with close linkage to the histocompatibility leukocyte antigens. The B14 haplotype was present in all affected members. One affected female had a daughter with classic, salt-losing 21 -hydroxylase deficiency. Mixed heterozygosity of this patient for a classic and a late-onset 21 -hydroxylase deficiency allele may have caused the classic phenotype in her daughter (homozygote for 2 classic alleles).<\/jats:p>","DOI":"10.1159\/000179502","type":"journal-article","created":{"date-parts":[[2008,11,29]],"date-time":"2008-11-29T09:18:13Z","timestamp":1227950293000},"page":"193-200","source":"Crossref","is-referenced-by-count":25,"title":["Late-Onset 21-Hydroxylase Deficiency Is an Allelic Variant of Congenital Adrenal Hyperplasia Characterized by Attenuated Clinical Expression and Different HLA Haplotype Associations"],"prefix":"10.1159","author":[{"given":"George P.","family":"Chrousos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"Loriaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dean","family":"Mann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gordon B.","family":"Cutler, Jr.","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,11,25]]},"container-title":["Hormone Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000179502","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T09:14:16Z","timestamp":1777626856000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000179502"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,25]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000179502","archive":["Portico"],"relation":{},"ISSN":["0301-0163","1423-0046"],"issn-type":[{"value":"0301-0163","type":"print"},{"value":"1423-0046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,25]]}}}