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Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory

Lookup NU author(s): Dr Anna MitchellORCiD, Dr Richard Quinton


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Idiopathic hypogonadotropic hypogonadism (IHH) is defined by absent or incomplete puberty and characterised biochemically by low levels of sex steroids, with low or inappropriately normal gonadotropin hormones. IHH is frequently accompanied by non-reproductive abnormalities, most commonly anosmia, which is present in 50-60% of cases and defines Kallmann syndrome. The understanding of IHH has undergone rapid evolution, both in respect of genetics and breadth of phenotype. Once considered in monogenic Mendelian terms, it is now more coherently understood as a complex genetic condition. Oligogenic and complex genetic-environmental interactions have now been identified, with physiological and environmental factors interacting in genetically susceptible individuals to alter the clinical course and phenotype. These potentially link IHH to ancient evolutionary pressures on the ancestral human genome.

Publication metadata

Author(s): Mitchell AL, Dwyer A, Pitteloud N, Quinton R

Publication type: Review

Publication status: Published

Journal: Trends in Endocrinology and Metabolism

Year: 2011

Volume: 22

Issue: 7

Pages: 249-258

Print publication date: 20/04/2011

ISSN (print): 1043-2760

ISSN (electronic): 1879-3061



DOI: 10.1016/j.tem.2011.03.002

PubMed id: 21511493