The increase in the number of urological and andrological diseases associated with undifferentiated connective tissue dysplasia dictates the need to study this problem in childhood. The present study was aimed at analyzing the phenotypic manifestations of undifferentiated connective tissue dysplasia, as well as the severity of the morphological changes in its structures in children with various urological and andrological pathology, that constituted the main observation group. As a control group, children with a similar pathology of the genitourinary system without signs of mesenchymal insufficiency were examined. Comparative analysis of the detection of the number of phenotypic markers as one of the indicators of connective tissue dysplasia in children with various nosological forms from the urological department made it possible to determine the prevalence rate of the number of phenotypes in patients with hypospadia, varicocele and congenital edema of the testicle, and in the highest percentage of cases - in patients with hypospadias. Craniocephalic anomalies and small anomalies of the oral cavity were diagnosed most frequently. In a smaller percentage of cases, stigmata of the auricles and the osteoarticular system were identified. Phenotypic manifestations of dysplasia in the form of eye anomalies, pathology of the skin and its appendages - were noted even less often. The morphological confirmation of undifferentiated connective tissue dysplasia in the examined patients was the detection of dystrophy of collagen and elastic fibers, detected by means of microscopy. At the same time, a characteristic sign of dysplasia was the chaotic arrangement of collagen fibers, their thickening and discontinuity. Staining for elastin allowed detecting the uneven arrangement, curvature or fragmentation of elastic fibers. In the work, there was made a study of the features of morphological changes in connective tissue structures, depending on the nosological form. With this aim, we divided various histological signs of mesenchymal insufficiency, revealed during microscopy, in three degrees of the severity. Histological studies of connective tissue structures confirmed the predominance of more pronounced morphological manifestations of dysplasia in patients with hypospadias. They had severe dystrophic changes in 70% of cases, while such abnormalities in children operated for varicocele, were noted in every fourth biopsy, and in hydrops patients - only in 15% of cases. The study of collagen and elastic fibers of dermal preparations resected during surgical interventions in children with phimosis against the background of dysplasia syndrome showed no significant pathological changes. In biopsies of this group of patients, there were only minimal manifestations of mesenchymal insufficiency. In children with urological and andrological pathology without signs of undifferentiated dysplasia, morphological disturbances in structural components of connective tissue corresponding to mild severity were noted. Thus, the performed analysis of manifestations of connective tissue dysplasia in children with various urological and andrological pathology showed the prevalence of the number of phenotypic markers and the severity of morphological changes in children with hypospadias. Less severe manifestations of dysplasia were noted in patients with varicocele and hydrocele. The study of signs of connective tissue insufficiency in the group of patients with phimosis showed their minimal manifestations.
Method of diagnostics of undifferentiated connective tissue dysplasia