The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes
Open accessAbstract
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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“Not all patients with these mutations showed early pregnancy losses, indicating a non-genetic component, such as alterations in placental function as a potentially contributing factor67,69,70.”
From Conditional loss of ERK1 and ERK2 results in abnormal placentation and delayed parturition in the mouse (2019) · cites this paper as [70]
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Congenital hypogonadotropic hypogonadism in females: Clinical spectrum, evaluation and genetics
Bry‐Gauillard, H., Trabado, S., Bouligand, J., Sarfati, J., Francou, B., Salenave, S., Chanson, P., Brailly‐Tabard, S., Guiochon‐Mantel, A., & Young, J. (2010) · Annales d Endocrinologie · doi:10.1016/j.ando.2010.02.024 · Cited by 43
Gürbüz, F., Kotan, L. D., Mengen, E., Şıklar, Z., Berberoğlu, M., Dökmetaş, H. S., Kılıçlı, M. F., Güven, A., Kırel, B., Saka, N., et al. (2012) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.725 · Cited by 30
Choi, J., Balasubramanian, R., Lee, P. H., Shaw, N. D., Hall, J. E., Plummer, L., Buck, C. L., Kottler, M., Jarząbek, K., Wołczyński, S., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2262 · Cited by 26
Cited by
Brown, J. L., Sones, J. L., Angulo, C. N., Abbott, K., Miller, A. D., Boehm, U., & Roberson, M. S. (2019) · Scientific Reports · doi:10.1038/s41598-019-45997-0 · Cited by 13
Metadata
- Authors
- Zernov, N., Skoblov, M., Baranova, A., & Boyarsky, K.
- Affiliations
- Research Centre for Medical Genetics (RU)
- Moscow Institute of Physics and Technology (RU)
- Saint Petersburg State Pediatric Medical University (RU)
- Corresponding author
- Baranova, Ancha
- Venue
- Reproductive Biology and Endocrinology
- Published
- 2016-08-20
- Volume
- 14
- Issue
- 1
- Pages
- 48-48
- ISSN
- 1477-7827 (ISSN-L)
- PMC
- PMC4992333
- OpenAlex
- W2515975096
- Cited by
- 18
- References
- 12
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 1 · 2020: 3 · 2019: 2 · 2018: 3 · 2017: 1
- FWCI
- 2.66
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Reproductive Biology and Endocrinology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
- Keywords
- gonadotropin-releasing hormone, GnRH receptor, GnRH signaling, compound heterozygosity, infertility, pregnancy outcomes, Russian patients, genetic diagnosis
- MeSH terms
- Adult, Female, Humans, Hypogonadism, Infant, Newborn, Infertility, Female, Gonadotropin-Releasing Hormone, Male, Pregnancy, Pregnancy Outcome, Signal Transduction, Mutation, Missense, Sperm Injections, Intracytoplasmic
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