Article
Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory.
Trends in endocrinology and metabolism: TEM - 1 Jul 2011
Mitchell Anna L, Dwyer Andrew, Pitteloud Nelly, Quinton Richard
Abstract excerpt
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...
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