{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:54:53Z","timestamp":1794020093317,"version":"4.8.0"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically and genetically heterogeneous disorder. Its exact incidence is currently unknown, and a mutation in one of the identified KS genes has only been found in ~30% of the patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Herein, we investigated epidemiological, clinical, and genetic features of KS in Finland.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The minimal incidence estimate of KS in Finland was 1:48 000, with clear difference between males (1:30 000) and females (1:125 000) (<jats:italic>p<\/jats:italic> = 0.02). The reproductive phenotype of 30 probands (25 men; 5 women) ranged from severe HH to partial puberty. Comprehensive mutation analysis of all 7 known KS genes (<jats:italic>KAL1<\/jats:italic>, <jats:italic>FGFR1<\/jats:italic>, <jats:italic>FGF8<\/jats:italic>, <jats:italic>PROK2<\/jats:italic>, <jats:italic>PROKR2<\/jats:italic>, <jats:italic>CHD7<\/jats:italic>, and <jats:italic>WDR11<\/jats:italic>) in these 30 well-phenotyped probands revealed mutations in <jats:italic>KAL1<\/jats:italic> (3 men) and <jats:italic>FGFR1<\/jats:italic> (all 5 women vs. 4\/25 men), but not in other genes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Our results suggest that Finnish KS men harbor mutations in gene(s) yet-to-be discovered with sex-dependent penetrance of the disease phenotype. In addition, some KS patients without <jats:italic>CHD7<\/jats:italic> mutations display CHARGE-syndrome associated phenotypic features (e.g. ear or eye anomalies), possibly implying that, in addition to <jats:italic>CHD7<\/jats:italic>, there may be other genes associated with phenotypes ranging from KS to CHARGE.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1750-1172-6-41","type":"journal-article","created":{"date-parts":[[2011,6,18]],"date-time":"2011-06-18T01:44:29Z","timestamp":1308361469000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":156,"title":["Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland"],"prefix":"10.1186","volume":"6","author":[{"given":"Eeva-Maria","family":"Laitinen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsi","family":"Vaaralahti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Tommiska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elina","family":"Eklund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari","family":"Tervaniemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Valanne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taneli","family":"Raivio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,6,17]]},"reference":[{"key":"310_CR1","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/0169-328X(89)90076-4","volume":"6","author":"M Schwanzel-Fukuda","year":"1989","unstructured":"Schwanzel-Fukuda M, Bick D, Pfaff DW: Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. 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