{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T13:57:20Z","timestamp":1772891840741,"version":"3.50.1"},"reference-count":23,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales d'Endocrinologie"],"published-print":{"date-parts":[[2010,9]]},"DOI":"10.1016\/j.ando.2010.04.003","type":"journal-article","created":{"date-parts":[[2010,6,14]],"date-time":"2010-06-14T04:31:06Z","timestamp":1276489866000},"page":"309-313","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Adrenal hypoplasia congenita \u2013 an uncommon reason of primary adrenal insufficiency"],"prefix":"10.1016","volume":"71","author":[{"given":"M.","family":"Fichna","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"\u017burawek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Gut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Sowi\u0144ski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Nowak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ando.2010.04.003_bib1","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/372672a0","article-title":"Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia and hypogonadotropic hypogonadism","volume":"372","author":"Muscatelli","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.ando.2010.04.003_bib2","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1006\/bmme.1995.1049","article-title":"Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal\/gonadal axis","volume":"56","author":"Guo","year":"1995","journal-title":"Biochem Mol Med"},{"key":"10.1016\/j.ando.2010.04.003_bib3","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1128\/MCB.17.3.1476","article-title":"DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypolasia congenita","volume":"17","author":"Ito","year":"1997","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.ando.2010.04.003_bib4","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S0022-3476(86)80980-5","article-title":"Duchenne muscular dystrophy, glicerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion","volume":"108","author":"Bartley","year":"1986","journal-title":"J Pediatr"},{"key":"10.1016\/j.ando.2010.04.003_bib5","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1136\/jmg.2007.055129","article-title":"Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita","volume":"45","author":"Shaikh","year":"2008","journal-title":"J Med Genet"},{"key":"10.1016\/j.ando.2010.04.003_bib6","first-page":"4501","article-title":"X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females","volume":"84","author":"Seminara","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.04.003_bib7","first-page":"504","article-title":"Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita","volume":"84","author":"Reutens","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.04.003_bib8","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1172\/JCI118866","article-title":"Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production","volume":"98","author":"Habiby","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ando.2010.04.003_bib9","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1210\/jc.2005-2429","article-title":"An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency","volume":"92","author":"Verrijn Stuart","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.04.003_bib10","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1172\/JCI7212","article-title":"A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism","volume":"105","author":"Tabarin","year":"2000","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ando.2010.04.003_bib11","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1530\/eje.1.02132","article-title":"DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients","volume":"154","author":"Montovani","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ando.2010.04.003_bib12","doi-asserted-by":"crossref","unstructured":"Palczewska I, Niedzwiedzka Z. Somatic development indices in children and youth of Warsaw. Med Wieku Rozwoj. 2001;5(2 Suppl 1):18\u2013118.","DOI":"10.1300\/J007v18n03_01"},{"key":"10.1016\/j.ando.2010.04.003_bib13","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1210\/edrv.23.3.0466","article-title":"Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction","volume":"23","author":"Betterle","year":"2002","journal-title":"Endocr Rev"},{"key":"10.1016\/j.ando.2010.04.003_bib14","first-page":"349","article-title":"Screening for associated autoimmune disorders in Polish patients with Addison's disease","volume":"37","author":"Fichna","year":"2010","journal-title":"Endocrinology"},{"key":"10.1016\/j.ando.2010.04.003_bib15","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1365-2265.2009.03652.x","article-title":"Clinical and genetic heterogeneity of congenita adrenal hypoplasia due to NROB1 gene mutations","volume":"72","author":"Landau","year":"2010","journal-title":"Clin Endcirinol (Oxf)"},{"key":"10.1016\/j.ando.2010.04.003_bib16","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/9629","article-title":"A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans","volume":"22","author":"Achermann","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.ando.2010.04.003_bib17","first-page":"32","article-title":"A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita","volume":"68","author":"Ahmad","year":"2007","journal-title":"Horm Res"},{"key":"10.1016\/j.ando.2010.04.003_bib18","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1210\/jc.2002-021560","article-title":"Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as nonsense mutation","volume":"88","author":"Brown","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.04.003_bib19","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/j.1365-2265.2006.02676.x","article-title":"Modulation of growth hormone action by sex steroids","volume":"65","author":"Meinhardt","year":"2006","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.ando.2010.04.003_bib20","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1111\/j.1365-2265.1981.tb00653.x","article-title":"Indices of serum androgens in normal puberty: correlations of two indices with chronological age, bone age and pubertal development in boys and girls","volume":"15","author":"Penfold","year":"1981","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.ando.2010.04.003_bib21","first-page":"1210","article-title":"Maturation of the regulation of growth hormone secretion in young males with hypogonadotropic hypogonadism pharmacologically exposed to progressive increments in serum testosterone","volume":"82","author":"Giustina","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.04.003_bib22","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.beem.2008.10.014","article-title":"Genetics of congenital adrenal hyperplasia","volume":"23","author":"Krone","year":"2009","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.04.003_bib23","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1056\/NEJMra0804635","article-title":"Predisposing factors for adrenal insufficiency","volume":"360","author":"Bornstein","year":"2009","journal-title":"N Engl J Med"}],"container-title":["Annales d'Endocrinologie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426610001113?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426610001113?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T22:44:31Z","timestamp":1757717071000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003426610001113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["S0003426610001113"],"URL":"https:\/\/doi.org\/10.1016\/j.ando.2010.04.003","relation":{},"ISSN":["0003-4266"],"issn-type":[{"value":"0003-4266","type":"print"}],"subject":[],"published":{"date-parts":[[2010,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Adrenal hypoplasia congenita \u2013 an uncommon reason of primary adrenal insufficiency","name":"articletitle","label":"Article Title"},{"value":"Annales d'Endocrinologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ando.2010.04.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}