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Background  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.    Methods  Herein, we investigated epidemiological, clinical, and genetic features of KS in Finland.    Results  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) ( p  = 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 ( KAL1 ,  FGFR1 ,  FGF8 ,  PROK2 ,  PROKR2 ,  CHD7 , and  WDR11 ) in these 30 well-phenotyped probands revealed mutations in  KAL1  (3 men) and  FGFR1  (all 5 women vs. 4/25 men), but not in other genes.    Conclusions  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  CHD7  mutations display CHARGE-syndrome associated phenotypic features (e.g. ear or eye anomalies), possibly implying that, in addition to  CHD7 , there may be other genes associated with phenotypes ranging from KS to CHARGE.

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland