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

作者：Mitchell Anna L; Dwyer Andrew; Pitteloud Nelly; Quinton Richard^*

来源：Trends in Endocrinology and Metabolism, 2011, 22(7): 249-258.

DOI：10.1016/j.tem.2011.03.002

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.

• 出版日期2011-7
• 单位河北医科大学