Innovative genetic, clinical and endocrinological aspects in young females affected with premature ovarian insufficiency [Innovativi aspetti genetici, clinici ed endocrini in una giovane popolazione femminile affetta da insufficienza ovarica prematura]

Aim. Heterogeneity premature ovarian insufficiency (POI) is one of the reasons why there are different causes that contribute in determining this type of hormonal disorder. Although the causes have already been established for many types of premature ovarian failure, are still uncertain causes in most cases of idiopathic forms, despite the description of several candidate genes, including BMP-15 gene. The gene under study is precisely the BMP-15, which is part of the superfamily of Transforming Growth Factors-beta or the TGF-β, which also belong to the growth differentiation factors (GDFs). Methods. This study examined a sample of Sicilian women suffering from POI, carefully selected according to their age, since in diese cases, the genetic factor probably has a greater impact Results and conclusion. Identify a mutant gene that causes ovarian failure may be important to make a diagnosis that can predict the possible future development of the disease. The outcome of the studies, however, has not found the gene in question, but it is hypothesized that this may be a direct consequence of the limited amount of women that was done the study, a case which may be rebutted by increasing the number of patients.