{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T12:32:18Z","timestamp":1763641938196,"version":"3.41.0"},"reference-count":58,"publisher":"Walter de Gruyter GmbH","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X-linked adrenal hypoplasia congenita (AHC) is caused by<\/jats:p><jats:p>To characterize clinically and at the molecular level a cohort of Spanish patients with AHC.<\/jats:p><jats:p>Nine boys (from five families) with AHC were screened for<\/jats:p><jats:p>gene mutations were found in all analyzed patients, one of them being novel (p.Gln305*). One patient presented with preserved hypothalamic-pituitary-gonadal axis. Salt-wasting episodes, delayed puberty, and hypogonadotropic hypogonadism were common, although no association was observed between AHC phenotype and genetic mutations. None of the patients has had descendants.<\/jats:p><jats:p>AHC phenotype cannot be predicted based on genetic results as there is no definite genotype-phenotype relationship, including intrafamilial variability. Nevertheless, genetic testing for<\/jats:p>","DOI":"10.1515\/jpem-2014-0472","type":"journal-article","created":{"date-parts":[[2015,6,2]],"date-time":"2015-06-02T12:18:00Z","timestamp":1433247480000},"source":"Crossref","is-referenced-by-count":5,"title":["Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1"],"prefix":"10.1515","volume":"28","author":[{"given":"Amaia Rodr\u00edguez","family":"Est\u00e9vez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo","family":"P\u00e9rez-Nanclares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaquin","family":"Fern\u00e1ndez-Toral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2690-8677","authenticated-orcid":false,"given":"Francisco","family":"Rivas-Crespo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan P.","family":"L\u00f3pez-Siguero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignacio","family":"D\u00edez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gema","family":"Grau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref311","first-page":"1","article-title":"DNA binding and transcriptional repression by DAX blocks steroidogenesis","author":"Zazopoulos","year":"1997","journal-title":"Nature"},{"key":"ref531","doi-asserted-by":"crossref","first-page":"606","DOI":"10.33588\/rn.4410.2006581","article-title":"Contiguous gene deletion syndrome in Xp the association between glycerol kinase deficiency congenital suprarenal hypoplasia and Duchenne s muscular dystrophy","volume":"21","author":"Pantoja","year":"2007","journal-title":"Rev Neurol"},{"key":"ref21","first-page":"1","article-title":"WG Congenital adrenal hypoplasia : clinical spectrum experience with hormonal diagnosis and report on new point mutations of the DAX gene","author":"Peter","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"4335","DOI":"10.1210\/jcem.84.12.6186","article-title":"a new clinical association of intrauterine growth retardation metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies","author":"Vilain","year":"1999","journal-title":"IMAGe J Clin Endocrinol Metab"},{"key":"ref91","first-page":"1","article-title":"Phenotypic spectrum of mutations in DAX","author":"Achermann","year":"2001","journal-title":"Mol Cell Endocrinol"},{"key":"ref511","first-page":"1","article-title":"An atypical kindred with linked adrenal hypoplasia congenita normal puberty and normal Dax promoter and coding sequence","author":"Loke","year":"2000","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/ng0894-497","article-title":"dosage sensitive locus at chromosome Xp is involved in male to female sex reversal","volume":"21","author":"Bardoni","year":"1994","journal-title":"Nat Genet"},{"key":"ref671","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1210\/mend.11.13.0038","article-title":"transcriptional silencing domain in DAX whose mutation causes adrenal hypoplasia congenita","volume":"11","author":"Lalli","year":"1997","journal-title":"Mol Endocrinol"},{"key":"ref321","first-page":"109","article-title":"PH Killing the messenger : new insights into nonsense - mediated mRNA decay","author":"Byers","year":"2002","journal-title":"J Clin Invest"},{"key":"ref571","first-page":"53","article-title":"linked congenital adrenal hypoplasia : new mutations and long - term follow - up in three patients","author":"Binder","year":"2000","journal-title":"Clin Endocrinol"},{"key":"ref261","first-page":"1","article-title":"- linked adrenal hypoplasia congenita : a mutation in DAX expands the phenotypic spectrum in males and females","author":"Seminara","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"ref01","first-page":"1","article-title":"AT Clinical and functional effects of mutations in the DAX gene in patients with adrenal hypoplasia congenita","volume":"11","author":"Reutens","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"ref141","first-page":"1","article-title":"An atypical kindred with linked adrenal hypoplasia congenita normal puberty and normal Dax promoter and coding sequence","author":"Loke","year":"2000","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref411","first-page":"1","article-title":"An alternate translation initiation site circumvents an amino - 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onset AHC in a prepubertal female","author":"Bernard","year":"2006","journal-title":"Mol Genet Metab"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1515\/jpem-2011-0362","article-title":"The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency","volume":"25","author":"Guoying","year":"2012","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref721","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1515\/jpem-2013-0260","article-title":"Fen de novo mutation of DAX in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism","volume":"27","author":"Wang","year":"2014","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2004.07.018","article-title":"ER Molecular mechanisms of DAX action","volume":"83","author":"Iyer","year":"2004","journal-title":"Mol Genet Metab"},{"key":"ref691","first-page":"109","article-title":"PH Killing the messenger : new insights into nonsense - mediated mRNA decay","author":"Byers","year":"2002","journal-title":"J Clin Invest"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0472\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T06:43:25Z","timestamp":1748414605000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0472\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":58,"journal-issue":{"issue":"9-10"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2014-0472","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"type":"electronic","value":"2191-0251"},{"type":"print","value":"0334-018X"}],"subject":[],"published":{"date-parts":[[2015,1,1]]}}}