{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:20:36Z","timestamp":1760188836709,"version":"3.40.4"},"reference-count":23,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"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":[[2007]]},"abstract":"A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH. Family history revealed that two maternal uncles had died soon after birth. A third uncle failed to thrive during infancy but improved with a course of cortisone, then being untreated until further investigation revealed adrenal insufficiency. A fourth uncle died aged 10 days, with urinary salt loss and hypoplastic adrenal glands at postmortem. Molecular studies on the proband, his mother, maternal grandmother, and surviving uncle showed a novel C to G substitution at nucleotide position 794 (missense mutation T265R) in the <i>DAX1 (NR0B1)<\/i> gene. The proband has responded well to steroid replacement but has proved sensitive to 9\u03b1-fludrocortisone treatment, developing hypertension on a dose of 133 \u00b5g\/m<sup>2<\/sup>\/day. At 8.8 years he was noted to have testicular volumes of 4 ml, despite no other evidence of secondary sexual development and prepubertal gonadotrophin levels. Novel features of this family include a novel <i>DAX1<\/i> mutation, marked variability in age of presentation, hypertension on \u2018standard\u2019 doses of 9\u03b1-fludrocortisone and mild testicular enlargement.<\/jats:p>","DOI":"10.1159\/000099835","type":"journal-article","created":{"date-parts":[[2007,2,16]],"date-time":"2007-02-16T11:11:55Z","timestamp":1171624315000},"page":"32-37","source":"Crossref","is-referenced-by-count":5,"title":["A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita"],"prefix":"10.1159","volume":"68","author":[{"given":"Imran","family":"Ahmad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy F.","family":"Paterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Adlard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippa","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Tolmie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Achermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malcolm D.C.","family":"Donaldson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2007,2,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2Fpath.1700600220"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2F372672a0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2F372635a0"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI118866"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097%2F00060793-199906000-00003"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.2.504"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2006-0603"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.12.4501"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI7212"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1530%2Feje.1.02132"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-3476%2897%2970218-X"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1067%2Fmpd.2000.108567"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.9.4068"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2FS1096-7192%2802%2900198-1"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.87.1.44"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2002-021034"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.73.1.17"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1086%2F301782"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.7.3171"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddg108"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.122044099"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1210%2Fen.142.10.4486"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2002-021560"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/99835","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/99835","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:44:20Z","timestamp":1745462660000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000099835"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":23,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2007,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000099835","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2007]]}}}