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

@article{Mitchell2011GeneticBA,
  title={Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory},
  author={A. Mitchell and A. Dwyer and N. Pitteloud and R. Quinton},
  journal={Trends in Endocrinology \& Metabolism},
  year={2011},
  volume={22},
  pages={249-258}
}
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… Expand
Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism.
[Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism].
Genetics of hypogonadotropic hypogonadism.
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References

SHOWING 1-10 OF 103 REFERENCES
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
Complex genetics in idiopathic hypogonadotropic hypogonadism.
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.
...
1
2
3
4
5
...