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1. Diagnosis and management of pseudohypoparathyroidism and related disorders:first international Consensus Statement

Author

Susanne Thiele, Eileen M. Shore, Luisa De Sanctis, Thomas Eggermann, Serap Turan, Murat Bastepe, Gabriel Á. Martos-Moreno, Aurora Garcia Ramirez, Vrinda Saraff, Nina Knight, Caroline Silve, Outi Mäkitie, Agnès Linglart, Marie Laure Kottler, Emily L. Germain-Lee, Rebecca Rodado, Philip Murray, Peter Kamenický, Lars Rejnmark, Masanori Minagawa, Anya Rothenbuhler, Kathleen Freson, Timothee Choplin, Alessia Usardi, Francesca Elli, Regina Matsunaga Martin, M. Carola Zillikens, Guillemette Devernois, Harald Jüppner, David Monk, Arrate Pereda, Neveen A. T. Hamdy, Gianpaolo de Filippo, Lionel Groussin, Elvire Le Norcy, Robert J. Pignolo, Ashley H. Shoemaker, Giovanna Mantovani, Olaf Hiort, Roberto Bufo, Guiomar Perez de Nanclares, Michael A. Levine, Beatriz Lecumberri, Philip Woods, Patrick Hanna, S Faisal Ahmed, Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothee, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Freson, Kathleen, Garcia Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Juppner, Harald, Kamenicky, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Makitie, Outi, Martin, Regina, Angel Martos-Moreno, Gabriel, Minagawa, Masanori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebecca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar, Linglart, Agnes, Clinicum, Lastentautien yksikkö, Children's Hospital, HUS Children and Adolescents, Internal Medicine, UAM. Departamento de Medicina, UAM. Departamento de Pediatría, Instituto de Investigación del Hospital de La Princesa (IP), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ), Università degli Studi di Milano = University of Milan (UNIMI), Harvard Medical School [Boston] (HMS), Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Università degli studi di Torino = University of Turin (UNITO), Lübeck University of Applied Sciences, Centre interdisciplinaire de recherche en biologie (CIRB), Labex MemoLife, École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Glasgow, Italian Progressive Osseous Heteroplasia Association (IPOHA), Service d'endocrinologie pédiatrique [CHU Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Connecticut Children's Medical Center, University of Connecticut (UCONN), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Université Paris Descartes - Paris 5 (UPD5), Leiden University Medical Center (LUMC), Universiteit Leiden, Thérapie génique, Génomique et Epigénomique (U 1169), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Endocrine Unit, Massachusetts General Hospital [Boston], Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Service de Génétique [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Pathologies, Imagerie et Biothérapies oro-faciales (EA 2496), Hospital Universitario La Paz, Department of Statistics [West Lafayette], Purdue University [West Lafayette], Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Universidade de São Paulo = University of São Paulo (USP), Chiba University Hospital, Manchester University NHS Foundation Trust (MFT), Bioaraba Health Research Institute, Mayo Clinic [Rochester], Aarhus University Hospital, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Birmingham Children’s Hospital, Vanderbilt University Medical Center [Nashville], Vanderbilt University [Nashville], University of Pennsylvania, Centre de recherche biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marmara University [Kadıköy - İstanbul], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Immunologie et génétique du diabète de type 1, génétique multifactorielle en endocrinologie pédiatrique (U986), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Departments of Medicine and Pediatrics, Department of Pediatrics, University of Turin, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Collège de France (CdF)-PSL Research University (PSL), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Center for Molecular and Vascular Biology, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universität zu Lübeck [Lübeck] - University of Lübeck [Lübeck], Endocrine Unit, Department of Medicine, and Pediatric Neprology Unit, MassGeneral Hospital for Children, Servicio de Endocrinología, Hospital Universitario La Paz, Hospital for Children and Adolescents, Helsinki University Central Hospital, Netherlands Genomics Initiative, Netherlands Consortium for Healthy Aging [Leiden, Netherlands] (NCHA), Laboratorio de Genética Molecular, Unidad de Investigación, Hospital de Txagorritxu, University of Milan, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), University of Helsinki, University of São Paulo (USP), University of Pennsylvania [Philadelphia], Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-École normale supérieure - Paris (ENS Paris), and Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, 0301 basic medicine, Pediatrics, Delayed Diagnosis, Endocrinology, Diabetes and Metabolism, Endocrinology, Statement (logic), Drug Resistance, Parathyroid hormone, MESH: Risk Assessment, Pseudohypoparathyroidism/diagnosis, STIMULATORY G-PROTEIN, Neonatal Screening/organization & administration, 0302 clinical medicine, MESH: Practice Guidelines as Topic, Program Development, BRACHYDACTYLY TYPE-E, PARATHYROID-HORMONE RESISTANCE, Disorders, IMPRINTING CONTROL ELEMENT, MESH: Infant, Newborn, MESH: Pseudohypoparathyroidism, MESH: Genetic Predisposition to Disease, Prognosis, 3. Good health, Diabetes and Metabolism, MESH: Parathyroid Hormone, IDENTIFIES PDE4D MUTATIONS, Parathyroid Hormone, NUCLEOTIDE REGULATORY PROTEIN, Consensus statement, Pseudohypoparathyroidism, Practice Guidelines as Topic, MESH: Drug Resistance, Female, medicine.symptom, Parathyroid Hormone/therapeutic use, medicine.medical_specialty, Consensus, Delayed Diagnosis/adverse effects, Medicina, 030209 endocrinology & metabolism, PROGRESSIVE OSSEOUS HETEROPLASIA, Parathyroid Hormone Resistance, Risk Assessment, Short stature, PATERNAL UNIPARENTAL DISOMY, Article, MESH: Prognosis, Growth hormone deficiency, GNAS INACTIVATING MUTATIONS, 03 medical and health sciences, Neonatal Screening, BECKWITH-WIEDEMANN SYNDROME, MESH: Program Development, medicine, Humans, Genetic Predisposition to Disease, MESH: Consensus, MESH: Neonatal Screening, [SDV.GEN]Life Sciences [q-bio]/Genetics, GS-ALPHA-GENE, MESH: Humans, ALBRIGHT HEREDITARY OSTEODYSTROPHY, business.industry, Brachydactyly, Infant, Newborn, Type 2 Diabetes Mellitus, medicine.disease, MESH: Male, MESH: Delayed Diagnosis, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Diagnosis and management, DEPENDENT PROBE AMPLIFICATION, Family medicine, 3121 General medicine, internal medicine and other clinical medicine, business, MESH: Female, Neurocognitive
Abstract

This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders, This Consensus Statement and the series of consensus meetings were supported by funds from the European Cooperation in Science and Technology (COST) action BM1208 on imprinting disorders (www.imprinting- disorders.eu), the European Society for Paediatric Endocrinology (ESPE) and the European Society for Endocrinology (ESE). Travel costs and housing of the representatives of the Asian Pacific Paediatric Endocrine Society (APPES) and of the Pediatric Endocrine Society (PES) were supported by their societies. The authors received no funding from pharmaceutical companies

Published
2018
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2. Diagnosis Accuracy of Transcutaneous Bilirubinometry in Very Preterm Newborns

Author

Sylvain Samperiz, Maya Gebus, Thierry Debillon, Chloé Epiard, Anne Ego, Amandine Rubio, Michel Deiber, Céline Genty, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Grenoble Alpes - UFR Médecine (UGA UFRM), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], Techniques pour l'Evaluation et la Modélisation des Actions de la Santé (TIMC-IMAG-ThEMAS), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Registre des Handicaps de l'Enfant et Observatoire Périnatal Isère, and RHEOP

Subjects
Male, Time Factors, MESH: Logistic Models, MESH: Phototherapy, chemistry.chemical_compound, 0302 clinical medicine, MESH: Bilirubin, MESH: Gestational Age, 030212 general & internal medicine, Prospective Studies, Prospective cohort study, Obstetrics, MESH: Infant, Extremely Premature, MESH: Infant, Newborn, Gestational age, Jaundice, MESH: Predictive Value of Tests, 3. Good health, Jaundice, Neonatal, Very preterm, Predictive value of tests, Infant, Extremely Premature, Female, France, medicine.symptom, Blood drawing, medicine.medical_specialty, Bilirubin, MESH: Jaundice, Neonatal, education, Gestational Age, MESH: Multivariate Analysis, 03 medical and health sciences, Neonatal Screening, Predictive Value of Tests, 030225 pediatrics, medicine, Humans, MESH: Neonatal Screening, Transcutaneous bilirubin, MESH: Humans, business.industry, MESH: Time Factors, Infant, Newborn, Phototherapy, MESH: Prospective Studies, MESH: Male, MESH: France, Logistic Models, chemistry, Pediatrics, Perinatology and Child Health, Multivariate Analysis, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, MESH: Female, Developmental Biology
Abstract

Background: Transcutaneous bilirubin (TcB) is a validated test for systematic screening of neonatal hyperbilirubinemia and monitoring term and near-term infants under phototherapy. Objectives: To evaluate TcB diagnostic accuracy for very preterm neonates. Methods: Total serum bilirubin (TSB) and TcB measurements were performed prospectively in a multicenter sample of newborns Results: Altogether, 481 measurements were analyzed in 167 preterm patients. Mean GA was 27.6 ± 1.6 weeks. The rates of newborns requiring phototherapy were 52% in the first 3 days, 16% from the 4th to the 7th day, and 2% during the second week. Diagnostic performance was similar among babies with or without phototherapy. TcB sensitivity decreased over time from 100% (93.9-100.0) to 50% (1.3-98.7). Specificity showed an inverse evolution from 14.8% (7.0-26.2) to 80.7% (72.2-89.2). The best performance was that of negative predictive values which varied from 95.5 to 100.0. False negatives were rare throughout the study (0.8% of measurements). In a multivariate analysis, the only factor significantly influencing discordance between TcB and TSB was postnatal age. We did not find any impact of GA and skin color. Conclusion: Among very preterm babies, TcB measurements might be useful for screening for neonatal jaundice in the first 2 weeks of life. In case of a TcB value below the phototherapy threshold, invasive TSB quantification could be unnecessary, with potential avoidance of blood drawing.

Published
2016
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3. Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism

Author

Pauline Romanet, Alain Enjalbert, Rachel Reynaud, Lindsay Osei, Morgane Pertuit, Irene Netchine, Anne Barlier, Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Biologie Moléculaire (MARSEILLE - Biolo Moléculaire), Assistance Publique - Hôpitaux de Marseille (APHM), and Dumonceaud, Corinne

Subjects
musculoskeletal diseases, MESH: Congenital Hypothyroidism, medicine.medical_specialty, endocrine system, endocrine system diseases, DNA Mutational Analysis, Epigenesis, Genetic, Diagnosis, Differential, Neonatal Screening, MESH: Diagnosis, Differential, Internal medicine, medicine, Macroglossia, GNAS complex locus, Chromogranins, Congenital Hypothyroidism, GTP-Binding Protein alpha Subunits, Gs, Humans, Osteodystrophy, MESH: Epigenesis, Genetic, MESH: DNA Mutational Analysis, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], [SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Pseudohypoparathyroidism, MESH: Neonatal Screening, Newborn screening, MESH: Humans, biology, business.industry, Thyroid, Brachydactyly, MESH: Infant, Newborn, Infant, Newborn, MESH: Pseudohypoparathyroidism, MESH: GTP-Binding Protein alpha Subunits, Gs, medicine.disease, Congenital hypothyroidism, medicine.anatomical_structure, Endocrinology, Pediatrics, Perinatology and Child Health, biology.protein, Female, medicine.symptom, business, MESH: Female, hormones, hormone substitutes, and hormone antagonists
Abstract

International audience; Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A includes multihormone resistance syndrome, Albright's hereditary osteodystrophy, and obesity and is caused by mutations in GNAS exon 1 through 13. PHP type 1B (PHP1B), caused by epigenetic changes in the GNAS locus, was initially described as an isolated resistance to PTH. Epigenetic changes in GNAS have also been reported in patients who display mild Albright's hereditary osteodystrophy or mild thyroid-stimulating hormone (TSH) resistance without mutation of GNAS. Here we report a case of PHP caused by epigenetic changes in GNAS in a patient with congenital hypothyroidism. The patient was referred for a positive newborn screening for hypothyroidism (TSH 50 mIU/L). She exhibited severe clinical features of congenital hypothyroidism. The thyroid was in place, and etiologic explorations were negative. TSH was normalized under L-thyroxin, and the symptoms disappeared, except for a macroglossia. In childhood, PHP was suspected in addition to elevated PTH, obesity, brachydactyly, and a rounded face. Sequencing, methylation analysis, and large deletion research were performed in GNAS. No genetic mutations were found. Methylation analysis revealed a broad epigenetic defect without deletion in GNAS consistent with sporadic PHP1B. The multilocus methylation analysis were negative. This finding expands the known onsets of PHP1B and emphasizes the need for a new PHP classification system. This case report has important consequences for the etiologic diagnosis of congenital hypothyroidism because it adds a new cause of the disease.

Published
2015

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