Investigation of vascular endothelial growth factor (VEGF) polymorphism in patients with idiopathic heavy menstrual bleeding.

PURPOSE: To investigate whether there is a relationship between the VEGF polymorphisms and idiopathic heavy menstrual bleeding (HMB-E)Query. METHODS: Sixty-five patients diagnosed with HMB-E according to the FIGO classification system and 65 female healthy volunteers were included in the study. The polymorphic regions rs699947 (- 2578C > A), rs1570360 (- 1154G > A), rs2010963 (+ 405G > C), rs3025039 (+ 936C > T), rs25648 (c534C > T) in the VEGF were detected using Next Generation DNA Sequencing method. RESULTS: The - 2578C > A polymorphism CC genotype, CA + AA genotypes, and C allele, as well as the - 1154G > A polymorphism AA genotype, and A allele were associated with increased risk of HMB-E (p < 0.05 for all). However, no statistically significant difference was found between the patient group and the control group in terms of genotype and allele distributions in the 405G > C, + 936C > T, c534C > T polymorphic regions (p > 0.05 for all). While the - 2578/ - 1154/ + 405/c534 AGGC haplotype decreased the risk of HMB-E, the 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.

Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.

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 ß-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.