Pheno- and Genotypic Characteristics of Undifferentiated Connective Tissue Dysplasia

The aim of the study was to study the clinical-anamnestic, molecular-genetic and morphological characteristics of patients with tubal-peritoneal infertility on the background of undifferentiated connective tissue dysplasia (uCTD). Material and methods . 60 cases of tubal-peritoneal infertility were analyzed. Patients were divided into 2 groups on the basis of a modified scoring scale by T. I. Kadurina. The degree of expression of uCTD on a modified scale by T. I. Kadurina and on the scale of T. I. Kadurina and L.N. Abbamukova was evaluated. In the following, the patients were genotyped for carriage of IL6-174 C / G gene polymorphism [rs1800795] and VEGF 634 G / C [rs2010963]. Some patients, from the groups represented, under operative intervention, performed a biopsy of fragments of the aponeurosis of the anterior abdominal wall followed by hemostasis. To study the structure of the connective tissue of the extracellular matrix, the sections were stained by Van-Geison and by Mallory. In the samples collagens I and III, as well as CD34 + -structures were detected immunohistochemically. Results. Using strict criteria (more than 6 external phenotypes), the clinical significance of anomalies increases, and the frequency decreases to 25%. Clinical manifestations of signs of hereditary pathology of connective tissue depend on environmental factors, gene penetrance and patterns of gene expression. Conclusions. Diagnosis of uCTD is possible already at the stage of physical examination with a complex evaluation of external and visceral phenotypic markers on the scale of T. I. Kadurina and L.N. Abbamukova and on a modified scale by T. I. Kadurina. The polymorphism of the genes IL6 - 174 [rs1800795] C> G C / C and VEGFA 634 [rs2010963] G> C G / C is a predictor of uCTD. Expression of type III collagen in this pathology indicates the presence of an unformed connective tissue, characterized by a high degree of vascularization. Violation of the architectonics of connective tissue is the basis for the formation of a multifaceted dysplasia associated pathology in patients with tubal-peritoneal infertility.