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Orphanet J Rare Dis. 2011 Jun 17;6:41. doi: 10.1186/1750-1172-6-41.

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.

Author information

1
Children's Hospital, Helsinki University Central Hospital, University of Helsinki, FI-00029 Helsinki, Finland.

Abstract

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.

PMID:
21682876
PMCID:
PMC3143089
DOI:
10.1186/1750-1172-6-41
[Indexed for MEDLINE]
Free PMC Article
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