Since the first report of a POU1F1 mutation in a patient with combined growth hormone (GH) and thyroid-stimulating hormone (TSH) deficiencies, huge progress has been made to try to decipher the pituitary development code. Anomalies of pituitary development are usually due to mutations of the genes coding for specific or non-specific transcription factors. Pituitary development is a complex process requiring the coordinated interplay of specific and non-specific pituitary transcription factors and signalling pathways ( Fig. Taking into account the fact that several reviews have been published in recent years on classical aetiologies of CPHD such as mutations of POU1F1 or PROP1, we focused the present overview on the data published in the last 5 years, to provide the reader with an updated review on this rapidly evolving field of knowledge. These data thus suggest that new mechanisms could explain the low rate of aetiological identification in this heterogeneous group of diseases. Finally, actors known to be involved in a very specific phenotype (hypogonadotroph hypogonadism for instance) have been identified in a wider range of phenotypes. New modes of inheritance for alterations of genes encoding transcription factors have also been described. Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules. Alexandru Saveanu Aix‐Marseille Université, Department of Endocrinology, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, APHM, APHM, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, France Aix‐Marseille Université, Department of Endocrinology, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, APHM, APHM, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, France Aix‐Marseille Université, Department of Endocrinology, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, APHM, APHM, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, France Aix‐Marseille Université, Department of Endocrinology, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, APHM, APHM, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, France Search for other papers by Alexandru Saveanu in Current site Google Scholar PubMed Close ,Īnne Barlier Aix‐Marseille Université, Department of Endocrinology, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, APHM, APHM, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, France Aix‐Marseille Université, Department of Endocrinology, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, APHM, APHM, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, France Aix‐Marseille Université, Department of Endocrinology, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, APHM, APHM, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, France Aix‐Marseille Université, Department of Endocrinology, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, APHM, APHM, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, France Search for other papers by Anne Barlier in Current site Google Scholar PubMed Close ,
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