ArticleFertility and sterility2014
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.
Article in Fertility and sterility, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Pooled it
- Gene-environment interaction in functional hypothalamic amenorrhea.Frontiers in endocrinology · 2024Review
- Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.International journal of molecular sciences · 2023Review
- Isolated anterior pituitary dysfunction in adulthood.Frontiers in endocrinology · 2023Review
- GNRHR-related central hypogonadism with spontaneous recovery - case report.Italian journal of pediatrics · 2022Article
- [Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism].Problemy endokrinologii · 2021Article
- Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.Human genetics · 2021Review
- Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism.Journal of the Endocrine Society · 2018Article
- Genetics of pubertal timing.Current opinion in pediatrics · 2018Review
- Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism.Journal of clinical research in pediatric endocrinology · 2017Review
- Article
- Genome-wide SNP data unveils the globalization of domesticated pigs.Genetics, selection, evolution : GSE · 2017Article
- Article
- GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.PloS one · 2017Article
- Gonadotropin-Releasing Hormone (GnRH) Receptor Structure and GnRH Binding.Frontiers in endocrinology · 2017Review
- Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes.Reproductive biology and endocrinology : RB&E · 2016Article
- Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.The Journal of clinical endocrinology and metabolism · 2015Article
- Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series.Journal of reproduction & infertilityArticle
- Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients.Asian journal of andrologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 4 institutions in 3 countries.
Funding
Abstract
objectiveTo analyze the GNRHR in patients with normosmic isolated hypogonadotropic hypogonadism (IHH) and constitutional delay of growth and puberty (CDGP).
designMolecular analysis and in vitro experiments correlated with phenotype.
settingAcademic medical center. PATIENT(S): A total of 110 individuals with normosmic IHH (74 male patients) and 50 with CDGP. INTERVENTION(S): GNRHR coding region was amplified and sequenced. MAIN OUTCOME MEASURE(S): Novel variants were submitted to in vitro analysis. Frequency of mutations and genotype-phenotype correlation were analyzed. Microsatellite markers flanking GNRHR were examined in patients carrying the same mutation to investigate a possible founder effect. RESULT(S): Eleven IHH patients (10%) carried biallelic GNRHR mutations. In vitro analysis of novel variants (p.Y283H and p.V134G) demonstrated complete inactivation. The founder effect study revealed that Brazilian patients carrying the p.R139H mutation shared the same haplotype. Phenotypic spectrum in patients with GNRHR mutations varied from complete GnRH deficiency to partial and reversible IHH, with a relatively good genotype-phenotype correlation. One boy with CDGP was heterozygous for the p.Q106R variant, which was not considered to be pathogenic. CONCLUSION(S): GNRHR mutations are a frequent cause of congenital normosmic IHH and should be the first candidate gene for genetic screening in this condition, especially in autosomal recessive familial cases. The founder effect study suggested that the p.R139H mutation arises from a common ancestor in the Brazilian population. Finally, mutations in GNRHR do not appear to be involved in the pathogenesis of CDGP.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.