Genetic and epigenetic studies of endocrine disorders related with reproductive axis

Abstract

Disorders of the reproductive axis are classically grouped according to their origin (central/secondary or peripheral/primary) and commonly determine relevant impairments in the individual's hormonal, reproductive and psychological health at all stages of life. The etiology of several congenital diseases involving the hypothalamic-pituitary region, such as central and peripheral precocious puberty were mainly clarified from the investigation of gene mutations using classical DNA sequencing techniques (Sanger method) and more recently large-scale sequencing. Despite these accomplishments, many diseases of the reproductive axis remain with their etiology still unknown (idiopathic). More recently, the possibility of epigenetic changes, including methylation defects, has been suggested as causal factors of these conditions. In the current research project, we have gathered 6 different original proposals for genetic and epigenetic studies, using robust and advanced methodologies applied to large cohorts (500 index patients) with disorders of the reproductive axis, including central or peripheral precocious puberty due to ovarian autonomy (McCune Albright) and polycystic ovary syndrome. (AU)