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={Anna L Mitchell and Andrew A. Dwyer and Nelly Pitteloud and Richard Quinton},
  journal={Trends in Endocrinology \& Metabolism},
  year={2011},
  volume={22},
  pages={249-258}
}
New understandings of the genetic basis of isolated idiopathic central hypogonadism.
TLDR
The description of several pedigrees, which include relatives who are affected either with isolated osmic defects, KS, or normo-osmic ICH, justifies the emerging idea that ICH is a complex genetic disease that is characterized by variable expressivity and penetrance.
Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism.
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
TLDR
Despite the fact that ANOS1 and FGFR1 are classical CHH genes and were thoroughly explored in several CHH cohorts the authors identified new, yet undescribed variants within their sequence, which support the genetic complexity of the disorder.
Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant
TLDR
The clinical heterogeneity observed in the 2 affected twins who carry an identical variant in the FGFR1 gene is described, and the effects of modifier genes and epigenetic factors on the expression ofFGFR1, as well as the various clinical manifestations of its mutations are warranted.
[Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism].
TLDR
A growing list of genes is involved in the etiology of IHH, suggesting the heterogeneity and complexity of the genetic bases of this condition.
Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing
TLDR
The genetics of CHH/KS are summarized and the challenges of oligogenic transmission and also its role in incomplete penetrance and variable expressivity in a perspective of genetic counseling are discussed.
GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.
TLDR
The genetics of CHH/KS are summarized and the challenges of oligogenic transmission are discussed and also its role in incomplete penetrance and variable expressivity in a perspective of genetic counseling is discussed.
[Kallmann-de Morsier syndrome: about 3 cases].
TLDR
Hormone therapy allows pubertal growth in all cases and fertility can be obtained in most of the cases.
Genetics of hypogonadotropic hypogonadism.
TLDR
Treatment of CHH is dependent on the individual's desire to preserve fertility and commonly include human chorionic gonadotropin (hCG) and recombinant follicle stimulating hormone (rFSH) to stimulate testosterone production and spermatogenesis.
A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene
TLDR
The patient's pathogenic mutation and inheritance is determined through high-throughput sequencing and experimental verification, which could better guide doctors for treatment.
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