{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T11:21:37Z","timestamp":1784546497450,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,9]],"date-time":"2005-05-09T00:00:00Z","timestamp":1115596800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a <jats:italic>DAX1<\/jats:italic> gene investigation in a patient with X\u2010linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in order to identify mutations causing this disorder and to confirm the clinical diagnosis. The description of the clinical course of the condition with a detailed documentation of longitudinal data is also reported. A male newborn was referred at 45 days of life because of vomiting, dehydration, and weight loss. The diagnosis was primary adrenal insufficiency. The appropriateness of glucocorticoid therapy during the prepubertal period was difficult to judge because of elevated ACTH levels on one hand and progressive retardation of bone age on the other hand. Basal and GnRH stimulated gonadotropin levels remained low during the entire period of examination and exogenous gonadotropin treatment was begun. This had to be interrupted at age 14.6 years because of the occurrence of a 3rd degree anaplastic ependimoma of the left posterior\u2010parietal region, without apparent lepto\u2010meningeal involvement. The molecular analysis of <jats:italic>DAX1<\/jats:italic> gene of the propositus showed deletion of nucleotides AAT in exon 2, resulting in the loss of the Asn430. No alterations were found in the mother and grandmother. This deleted residue lies in one of the helices forming the hydrophobic core of the ligand\u2010binding domain (LBD); thus this mutation may be the cause of the observed phenotype. Further investigations are needed to verify its causal role in AHC associated with HH. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30689","type":"journal-article","created":{"date-parts":[[2005,5,9]],"date-time":"2005-05-09T22:46:56Z","timestamp":1115678816000},"page":"292-296","source":"Crossref","is-referenced-by-count":11,"title":["A new <i>DAX1<\/i> gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism"],"prefix":"10.1002","volume":"135A","author":[{"given":"Antonio","family":"Balsamo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Antelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Baldazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Baronio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dina","family":"Lazareva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Cassio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Cicognani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.11.7662"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1999.00601.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2000.01038.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.18.5.2949"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118866"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.56.9.715"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/mend.11.13.0038"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.13.4910-4921.2000"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2004.01988.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/372672a0"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.8.2666"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.2.504"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/372635a0"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/301782"},{"key":"e_1_2_5_16_1","first-page":"1","article-title":"Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita","volume":"463","author":"Zhang YH","year":"2001","journal-title":"Hum Mutat"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30689","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30689","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:56:08Z","timestamp":1697655368000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30689"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5,9]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,6,15]]}},"alternative-id":["10.1002\/ajmg.a.30689"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30689","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5,9]]}}}