{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:27:48Z","timestamp":1790616468705,"version":"4.1.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":["eur j endocrinol"],"published-print":{"date-parts":[[2006,5]]},"abstract":"<jats:p><jats:italic>Objective<\/jats:italic>: Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal hypoplasia congenita (AHC). Affected boys usually present with primary adrenal failure in early infancy or childhood. Impaired sexual development due to hypogonadotropic hypogonadism becomes manifest at the time of puberty. Moreover, evidence from <jats:italic>Dax1<\/jats:italic> knockout mice and a limited number of patients with AHC, suggests that mutations in <jats:italic>DAX1<\/jats:italic> may directly cause abnormalities in spermatogenesis. The aim of this study was to characterize clinically and genetically five patients with AHC.<\/jats:p>\n      <jats:p><jats:italic>Design<\/jats:italic>: DNA sequencing analysis, endocrine testing, testicular ultrasound and semen analysis with 1-year follow-up after gonadotropin treatment.<\/jats:p>\n      <jats:p><jats:italic>Methods<\/jats:italic>: We report on five men with classic AHC manifestations. Genomic DNA was extracted from patients\u2019 peripheral blood leukocytes and the coding region, splice sites, and promoter (\u2212240 bp) region of <jats:italic>DAX1<\/jats:italic> were directly sequenced.<\/jats:p>\n      <jats:p><jats:italic>Results<\/jats:italic>: Three known and two novel mutations were detected in the <jats:italic>DAX1<\/jats:italic> coding sequence in these patients. Semen analysis was performed in four of the five patients and showed azoospermia. Twelvemonth treatment with gonadotropins did not restore fertility in these patients. All patients showed a normal testicular Doppler ultrasound, in contrast with that observed in <jats:italic>Dax1<\/jats:italic>-deficient mice, which display abnormalities in the rete testis.<\/jats:p>\n      <jats:p><jats:italic>Conclusions<\/jats:italic>: These cases further expand the number of <jats:italic>DAX1<\/jats:italic> mutations reported in the literature, as well as our clinical knowledge of this rare disease.<\/jats:p>","DOI":"10.1530\/eje.1.02132","type":"journal-article","created":{"date-parts":[[2006,4,27]],"date-time":"2006-04-27T17:31:06Z","timestamp":1146159066000},"page":"685-689","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":39,"title":["DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients"],"prefix":"10.1093","volume":"154","author":[{"given":"Giovanna","family":"Mantovani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernesto","family":"De Menis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Borretta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Radetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bondioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Spada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Persani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Beck-Peccoz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/154\/5\/1540685.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/154\/5\/1540685.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:36:12Z","timestamp":1676392572000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/154\/5\/685\/6695569"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5]]},"references-count":0,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/eje.1.02132","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5]]}}}