{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T02:45:19Z","timestamp":1767840319183,"version":"3.49.0"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,7,30]],"date-time":"2007-07-30T00:00:00Z","timestamp":1185753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2003<\/jats:bold> X\u2010linked adrenal hypoplasia congenita (AHC, OMIM 300200) due to mutations in the <jats:italic>DAX\u20101<\/jats:italic> gene is frequently associated to hypogonadotrophic hypogonadism (HHG, OMIM 238320). Clinical variants with delayed\u2010onset have been recognized. The objective of this study is to assess Sertoli cell function throughout pubertal development in patients with childhood\u2010onset AHC due to stop mutations in the <jats:italic>DAX\u20101<\/jats:italic> gene.<\/jats:p><jats:p><jats:bold>Design\u2003<\/jats:bold> Observational follow\u2010up study of gonadotrophin pulsatility pattern, and serum levels of antim\u00fcllerian hormone and inhibin B through pubertal development in these patients.<\/jats:p><jats:p><jats:bold>Patients\u2003<\/jats:bold> Three patients belonging to two families with AHC were included in this study.<\/jats:p><jats:p><jats:bold>Measurements\u2003<\/jats:bold> The gonadotrophic pattern, serum inhibin B and antim\u00fcllerian hormone were determined in relation to clinical Tanner stage of pubertal development.<\/jats:p><jats:p><jats:bold>Results\u2003<\/jats:bold> One patient showed a marked elevation in serum FSH concomitantly with low inhibin B and antim\u00fcllerian hormone levels, indicating a primary testicular dysfunction. The other two patients showed a gonadotrophic pattern of HHG, and their serum levels of inhibin B and antim\u00fcllerian hormone also reflected a moderate primary testicular dysfunction. The three patients were azoospermic.<\/jats:p><jats:p><jats:bold>Conclusions\u2003<\/jats:bold> These cases give further insight into the clinical spectrum of phenotypes of the hypothalamic\u2013pituitary\u2013gonadal axis in patients with variants in hypogonadism associated with childhood\u2010onset X\u2010linked AHC due to <jats:italic>DAX\u20101<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2007.03026.x","type":"journal-article","created":{"date-parts":[[2007,9,7]],"date-time":"2007-09-07T20:41:12Z","timestamp":1189197672000},"page":"240-246","source":"Crossref","is-referenced-by-count":16,"title":["Seminiferous tubule function in delayed\u2010onset X\u2010linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic 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