Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease
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 activi...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2014/649154 |
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| author | Marco Marino Valeria Moriondo Eleonora Vighi Elisa Pignatti Manuela Simoni |
| author_facet | Marco Marino Valeria Moriondo Eleonora Vighi Elisa Pignatti Manuela Simoni |
| author_sort | Marco Marino |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-677ea2249a214cbe821dd03d937695a5 |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-677ea2249a214cbe821dd03d937695a52025-02-03T05:57:32ZengWileyInternational Journal of Endocrinology1687-83371687-83452014-01-01201410.1155/2014/649154649154Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex DiseaseMarco Marino0Valeria Moriondo1Eleonora Vighi2Elisa Pignatti3Manuela Simoni4Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, ItalyUnit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, ItalyUnit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, ItalyUnit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, ItalyUnit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, ItalyCentral 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.http://dx.doi.org/10.1155/2014/649154 |
| spellingShingle | Marco Marino Valeria Moriondo Eleonora Vighi Elisa Pignatti Manuela Simoni Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease International Journal of Endocrinology |
| title | Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease |
| title_full | Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease |
| title_fullStr | Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease |
| title_full_unstemmed | Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease |
| title_short | Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease |
| title_sort | central hypogonadotropic hypogonadism genetic complexity of a complex disease |
| url | http://dx.doi.org/10.1155/2014/649154 |
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