Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone-beta (TSHB) gene are responsible for isolated CCH. In this paper, we present the cases of two siblings with a novel mutation of TSHB. Direct sequencing of the coding regions and exon/intron boundaries of the TSHB gene revealed two homozygous nucleotides changes. One of them was c.40A>G (rs10776792) which is a very common variation that is also seen in healthy individuals, the other was c.94G>A at codon 32 of exon 2 which resulted in a change from glutamic acid to lysine (p.E32K). Both patients were homozygous and the parents were heterozygous.
Purpose: To investigate whether there is a relationship between the VEGF gene polymorphisms and idiopathic heavy menstrual bleeding (HMB-E).Methods: 65 patients diagnosed with HMB-E according to the FIGO classi cation system and 65 female healty volunteers were included in the study. Detection of rs699947 (-2578C>A), rs1570360 (-1154G>A), rs2010963 (+405G>C), rs3025039 (+936C>T), rs25648 (c534C>T) polymorphic regions of the VEGF gene was performed by Next Generation DNA Sequencing method.Results: the -2578C>A polymorphic region CC, CA+AA genotypes, and C allele, as well as the -1154G>A polymorphic region AA genotype, and A allele were associated with increased risk of HMB-E (all p<0.05). However, no statistically signi cant difference was found between the the patient group and the control group in terms of genotype and allele distributions in the 405G>C, +936C>T, c534C>T polymorphic regions (all p>0.05). While the -2578/-1154/+405/c534 AGGC haplotype decreased the risk of HMB-E, CAGC haplotype was found to increase the risk of HMB-E. Conclusion: VEGF -2578C>A and -1154G>A polymorphisms were signi cantly associated with the risk of HMB-E in the Turkish population.
Purpose: To investigate whether there is a relationship between the VEGF gene polymorphisms and idiopathic heavy menstrual bleeding (HMB-E).Methods: 65 patients diagnosed with HMB-E according to the FIGO classification system and 65 female healty volunteers were included in the study. Detection of rs699947 (-2578C>A), rs1570360 (-1154G>A), rs2010963 (+405G>C), rs3025039 (+936C>T), rs25648 (c534C>T) polymorphic regions of the VEGF gene was performed by Next Generation DNA Sequencing method.Results: the -2578C>A polymorphic region CC, CA+AA genotypes, and C allele, as well as the -1154G>A polymorphic region AA genotype, and A allele were associated with increased risk of HMB-E (all p<0.05). However, no statistically significant difference was found between the the patient group and the control group in terms of genotype and allele distributions in the 405G>C, +936C>T, c534C>T polymorphic regions (all p>0.05). While the -2578/-1154/+405/c534 AGGC haplotype decreased the risk of HMB-E, CAGC haplotype was found to increase the risk of HMB-E.Conclusion: VEGF -2578C>A and -1154G>A polymorphisms were significantly associated with the risk of HMB-E in the Turkish population.
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