This review is devoted to an urgent and insufficiently studied problem - the characteristics of the pubertal development of girls with cystic fibrosis (CF), the deviations in the period of menarche, the stages of the puberty, anatomical and physiological features of the female reproductive system in this monogenic disease. The increase in life expectancy, as well as the spread and increasing availability of targeted therapies, highlight the need for further research on this topic. Early diagnosis of disorders of pubertal development due to timely prescribed therapy (hormonal) allows not only correcting the timing of the onset of menarche in CF adolescent girls, but also increasing the chances of conceiving and bearing a child.
The aim of the study was to determine the clinical and genetic features of the syndrome of undifferentiated connective tissue dysplasia (CTD) in cystic fibrosis (CF) children and the possible modifying effect of polymorphisms of connective tissue genes on the development of severe pathology of the bronchopulmonary system in CF cases. 188 patients with the moderate to severe course of СF, aged from 3 to 17 years were examined. In СF patients significant associations have been established between polymorphisms of matrix metalloproteinase 3, the phenotypic signs of CTD and severe clinical signs of respiratory disorders.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.