title: Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.
abstract: Central hypogonadotropic hypogonadism (CHH) is an emerging pathological condition frequently associated with overweight, metabolic syndrome, diabetes, and midline defects. The genetic mechanisms involve mutations in at least twenty-four genes regulating GnRH neuronal migration, secretion, and activity. So far, the mechanisms underlying CHH, both in prepubertal and in adulthood onset forms, remain unknown in most of the cases. Indeed, all detected gene variants may explain a small proportion of the affected patients (43%), indicating that other genes or epigenetic mechanisms are involved in the onset of CHH. The aim of this review is to summarize the current knowledge on genetic background of CHH, organizing the large amount of data present in the literature in a clear and concise manner, to produce a useful guide available for researchers and clinicians.
authors.affiliation: Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, Italy ; Center for Genomic Research, University of Modena and Reggio Emilia, Via Giuseppe Campi 187, 41125 Modena, Italy.
authors.forename: Marco
authors.identifier: 0000-0002-7470-7493
authors.initials: M
authors.lastname: Marino
authors.affiliation: Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, Italy ; Center for Genomic Research, University of Modena and Reggio Emilia, Via Giuseppe Campi 187, 41125 Modena, Italy.
authors.forename: Valeria
authors.identifier: 0000-0001-6088-5048
authors.initials: V
authors.lastname: Moriondo
authors.affiliation: Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, Italy ; Center for Genomic Research, University of Modena and Reggio Emilia, Via Giuseppe Campi 187, 41125 Modena, Italy.
authors.forename: Eleonora
authors.identifier: 0000-0003-0229-5263
authors.initials: E
authors.lastname: Vighi
authors.affiliation: Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, Italy ; Center for Genomic Research, University of Modena and Reggio Emilia, Via Giuseppe Campi 187, 41125 Modena, Italy.
authors.forename: Elisa
authors.identifier: 0000-0003-3527-3132
authors.initials: E
authors.lastname: Pignatti
authors.affiliation: Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, Italy ; Center for Genomic Research, University of Modena and Reggio Emilia, Via Giuseppe Campi 187, 41125 Modena, Italy ; Azienda USL of Modena, Via San Giovanni del Cantone 23, 41121 Modena, Italy.
authors.forename: Manuela
authors.identifier: 0000-0002-2133-4304
authors.initials: M
authors.lastname: Simoni