{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T12:34:20Z","timestamp":1777898060665,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,11,28]],"date-time":"2008-11-28T00:00:00Z","timestamp":1227830400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,11,28]],"date-time":"2008-11-28T00:00:00Z","timestamp":1227830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res"],"abstract":"<jats:p>The mode of inheritance of primary gonadotropic deficiency was studied in 38 children and adolescents. 92% of this population was male with high frequencies of undescended testes (80%) and micropenis (31 %). Anosmia was present in 61 % of the patients aged more than 5 years and was a frequent genetic marker in the families. Inheritance was matrilineal in 18, X-linked dominant or autosomal dominant in 6. In 13 cases, the transmission was patrilineal and evoked autosomal dominant inheritance. An autosomal recessive transmission was likely in 7 patients. The data agree with the suggestion of multiple modes of inheritance of congenital gonadotropic deficiency, and clearly show the wide range of expressivity of the disorder.<\/jats:p>","DOI":"10.1159\/000181003","type":"journal-article","created":{"date-parts":[[2008,12,1]],"date-time":"2008-12-01T08:16:09Z","timestamp":1228119369000},"page":"202-206","source":"Crossref","is-referenced-by-count":14,"title":["Mode of Inheritance in Familial Cases of Primary Gonadotropic Deficiency"],"prefix":"10.1159","author":[{"given":"J.L.","family":"Chaussain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.E.","family":"Toublanc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Feingold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Naud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Vassal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.C.","family":"Job","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,11,28]]},"container-title":["Hormone Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000181003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T09:19:16Z","timestamp":1777627156000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000181003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,28]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000181003","archive":["Portico"],"relation":{},"ISSN":["0301-0163","1423-0046"],"issn-type":[{"value":"0301-0163","type":"print"},{"value":"1423-0046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,28]]}}}