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Reproductive Biology and Endocrinology

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Open Access 01-12-2016 | Short Communication

Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes

Authors: Nikolay Zernov, Mikhail Skoblov, Ancha Baranova, Konstantin Boyarsky

Published in: Reproductive Biology and Endocrinology | Issue 1/2016

Abstract

Background

Anomalous levels of gonadotropin-releasing hormone (GnRH) secretion result in a variety of reproductive phenotypes associated with infertility or subfertility. The normosmic isolated hypogonadotropic hypogonadism (nIHH) is due to a failure of either GnRH pulsatile secretion in hypothalamus or its reception in pituitary. The spectrum of nIHH-associated alterations continues to expand, especially when additional ethnic populations are investigated. The aim of this study was to uncover genetic causes for nIHH in patients of Russian origin.

Methods

For two nIHH patients referred to infertility clinic, both exons and promoter sequences of 6 GnRH signaling genes were sequenced.

Results

Patient 1 was a compound heterozygote for mutations in GnRH and its receptor encoding genes, while in Patient 2 GnRHR mutations were found in homozygous state. In both patients, the coding frame of GnRHR gene harbored missense-mutation Arg139His previously described as founder mutation in Polish and Brazilan patients. IVF/ET treatments were successful, with phenotypically healthy offsprings delivered.

Conclusion

Polish founder mutation Arg139His in GnRHR was found in two nIHH patients originating from Western region of Russia. Common variant of GnRH-encoding gene, Trp16Ser, could possibly contribute to reproductive phenotypes in patients with heterozygous mutations of other GnRH signaling pathway genes.

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Title: Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes
Authors: Nikolay Zernov
Mikhail Skoblov
Ancha Baranova
Konstantin Boyarsky
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Reproductive Biology and Endocrinology / Issue 1/2016
Electronic ISSN: 1477-7827
DOI: https://doi.org/10.1186/s12958-016-0183-8

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes

Abstract

Background

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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