المؤلفون: Dubinski I; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich D-80337, Germany., Bechtold-Dalla Pozza S; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich D-80337, Germany., Debor B; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich D-80337, Germany., Nowotny HF; Department of Medicine IV, University Hospital, LMU Munich, Munich D-80337, Germany., Reisch N; Department of Medicine IV, University Hospital, LMU Munich, Munich D-80337, Germany., Tschaidse L; Department of Medicine IV, University Hospital, LMU Munich, Munich D-80337, Germany., Schmidt H; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich D-80337, Germany.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2024 May 02; Vol. 190 (5), pp. L5-L6.

نوع المنشور: Letter; Editorial; Comment

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/blood , Adrenal Hyperplasia, Congenital*/diagnosis , Blood Glucose*/analysis , Blood Glucose*/metabolism , Blood Glucose Self-Monitoring*/methods, Humans ; Child ; Adolescent ; Female ; Male ; Child, Preschool ; Hypoglycemia/blood ; Hypoglycemia/diagnosis ; Continuous Glucose Monitoring

المؤلفون: Galderisi A; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Department of Pediatrics, Pediatric Endocrinology, Yale University, New Haven, CT, United States., Kariyawasam D; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France.; Cochin Institute, INSERM U1016, Paris, France.; IMAGINE Institute Affiliate, INSERM U1163, Paris, France., Stoupa A; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France.; Cochin Institute, INSERM U1016, Paris, France.; IMAGINE Institute Affiliate, INSERM U1163, Paris, France., Quoc AN; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France., Pinto G; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France., Viaud M; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France., Brabant S; Department of Functional Explorations, Necker-Enfants Malades University Hospital, AP-HP Centre, Paris, France., Beltrand J; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France.; Cochin Institute, INSERM U1016, Paris, France.; IMAGINE Institute Affiliate, INSERM U1163, Paris, France., Polak M; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France.; Cochin Institute, INSERM U1016, Paris, France.; IMAGINE Institute Affiliate, INSERM U1163, Paris, France., Samara-Boustani D; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2024 May 02; Vol. 190 (5), pp. L7.

نوع المنشور: Letter; Editorial; Comment

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/blood , Adrenal Hyperplasia, Congenital*/diagnosis , Blood Glucose*/metabolism , Blood Glucose*/analysis, Humans ; Child ; Female ; Male ; Child, Preschool ; Adolescent ; Blood Glucose Self-Monitoring/methods ; Hypoglycemia/blood ; Hypoglycemia/diagnosis ; Continuous Glucose Monitoring

المؤلفون: Tschaidse L; Department of Medicine IV, LMU University Hospital, LMU Munich, 80336 Munich, Germany., Wimmer S; Department of Medicine IV, LMU University Hospital, LMU Munich, 80336 Munich, Germany., Nowotny HF; Department of Medicine IV, LMU University Hospital, LMU Munich, 80336 Munich, Germany., Auer MK; Department of Medicine IV, LMU University Hospital, LMU Munich, 80336 Munich, Germany., Lottspeich C; Department of Medicine IV, LMU University Hospital, LMU Munich, 80336 Munich, Germany., Dubinski I; Department of Paediatrics, Division of Paediatric Endocrinology, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80336 Munich, Germany., Schiergens KA; Department of Paediatrics, Division of Paediatric Endocrinology, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80336 Munich, Germany., Schmidt H; Department of Paediatrics, Division of Paediatric Endocrinology, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80336 Munich, Germany., Quinkler M; Endocrinology in Charlottenburg, 10627 Berlin, Germany., Reisch N; Department of Medicine IV, LMU University Hospital, LMU Munich, 80336 Munich, Germany.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2024 Mar 30; Vol. 190 (4), pp. 275-283.

نوع المنشور: Observational Study; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/drug therapy , Adrenal Hyperplasia, Congenital*/complications , Adrenal Insufficiency*/epidemiology , Adrenal Insufficiency*/etiology, Adult ; Child ; Humans ; Prospective Studies ; Glucocorticoids/therapeutic use ; Acute Disease

المؤلفون: Charoensri S; Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, United States., Auchus RJ; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, United States.; Department of Pharmacology, University of Michigan, Ann Arbor, MI 48109, United States.; Endocrinology & Metabolism Section, Medicine Service, LTC Charles S. Kettles VA Medical Center, Ann Arbor, MI 48104, United States.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2023 Nov 08; Vol. 189 (5), pp. R11-R22.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Hypertension*/genetics , Hypertension*/therapy , Hyperaldosteronism*/diagnosis , Hyperaldosteronism*/genetics , Hyperaldosteronism*/therapy , Mineralocorticoid Excess Syndrome, Apparent*/diagnosis , Mineralocorticoid Excess Syndrome, Apparent*/genetics , Adrenal Hyperplasia, Congenital*/diagnosis , Adrenal Hyperplasia, Congenital*/genetics , Adrenal Hyperplasia, Congenital*/therapy, Humans ; Steroids ; Aldosterone

المؤلفون: Galderisi A; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Department of Pediatrics, Pediatric Endocrinology, Yale University, New Haven, CT, United States., Kariyawasam D; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France.; Cochin Institute, INSERM U1016, Paris, France.; IMAGINE Institute Affiliate, INSERM U1163, Paris, France., Stoupa A; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France.; Cochin Institute, INSERM U1016, Paris, France.; IMAGINE Institute Affiliate, INSERM U1163, Paris, France., Quoc AN; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France., Pinto G; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France., Viaud M; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France., Brabant S; Department of Functional Explorations, Necker-Enfants Malades University Hospital, AP-HP Centre, Paris, France., Beltrand J; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France.; Cochin Institute, INSERM U1016, Paris, France.; IMAGINE Institute Affiliate, INSERM U1163, Paris, France., Polak M; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.; Faculty of Medicine, Université Paris Cité, Paris, France.; Cochin Institute, INSERM U1016, Paris, France.; IMAGINE Institute Affiliate, INSERM U1163, Paris, France., Samara-Boustani D; Department of Paediatric Endocrinology, Diabetology, and Gynaecology, Necker-Enfants Malades University Hospital, Centre de Référence des Maladies endocriniennes Rares de la Croissance et du Développement (filière FIRENDO), AP-HP Centre, Paris, France.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2023 Nov 08; Vol. 189 (5), pp. K19-K24.

نوع المنشور: Observational Study; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/drug therapy , Hypoglycemia*, Child ; Female ; Humans ; Child, Preschool ; Hydrocortisone ; Glucose ; Blood Glucose Self-Monitoring ; Blood Glucose ; Adrenocorticotropic Hormone

المؤلفون: Schröder MAM; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Radboudumc Graduate School, Radboud University Medical Center, Nijmegen, The Netherlands., Neacşu M; Department of Laboratory Medicine, Radboudumc Graduate School, Radboud University Medical Center, Nijmegen, The Netherlands., Adriaansen BPH; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Radboudumc Graduate School, Radboud University Medical Center, Nijmegen, The Netherlands., Sweep FCGJ; Department of Laboratory Medicine, Radboudumc Graduate School, Radboud University Medical Center, Nijmegen, The Netherlands., Ahmed SF; Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom.; Office of Rare Conditions, University of Glasgow, Glasgow, United Kingdom., Ali SR; Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom.; Office of Rare Conditions, University of Glasgow, Glasgow, United Kingdom., Bachega TASS; Laboratory of Hormones and Molecular Genetics-LIM 42, Department of Endocrinology and Metabolism, University of Sao Paulo, Sao Paulo, Brazil., Baronio F; Department Hospital of Woman and Child, Pediatric Unit, IRCCS AOU di Bologna, Policlinico di S.Orsola, Bologna, Italy., Birkebæk NH; Department of Pediatrics and Steno Diabetes Center Aarhus, Aarhus University Hospital, Aarhus, Denmark., de Bruin C; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Bonfig W; Department of Pediatrics, Technical University Munich, Munich, Germany.; Department of Pediatrics, Klinikum Wels-Grieskirchen, Wels, Austria., Bryce J; Office of Rare Conditions, University of Glasgow, Glasgow, United Kingdom., Clemente M; Pediatric Endocrinology Unit, Hospital Vall d'Hebron, Autonomous University of Barcelona, CIBERER, Barcelona, Spain., Cools M; Pediatric Endocrinology, Internal Medicine and Pediatric Research Unit, University Hospital Ghent, Ghent University, Ghent, Belgium., Elsedfy H; Pediatrics Department, Ain Shams University, Cairo, Egypt., Globa E; Ukrainian Research Center of Endocrine Surgery, Endocrine Organs and Tissue Transplantation, MOH of Ukraine, Kyiv, Ukraine., Guran T; Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey., Güven A; Baskent University Medical Faculty, Istanbul Hospital, Pediatrics Department, Ain Shams University, Cairo, Egypt., Amr NH; Pediatrics Department, Ain Shams University, Cairo, Egypt., Janus D; Department of Pediatric and Adolescent Endocrinology, Institute of Pediatrics, Jagiellonian University Medical College, and Children's University Hospital, Krakow, Poland., Taube NL; Department of Pediatrics, Division of Endocrinology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Markosyan R; Yerevan State Medical University, Yerevan, Armenia., Miranda M; Laboratory of Hormones and Molecular Genetics-LIM 42, Department of Endocrinology and Metabolism, University of Sao Paulo, Sao Paulo, Brazil., Poyrazoğlu Ş; İstanbul Faculty of Medicine, Unit of Pediatric Endocrinology, İstanbul University, İstanbul, Turkey., Rees A; Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom., Salerno M; Pediatric Endocrine Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Stancampiano MR; Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Endo-ERN Center for Rare Endocrine Conditions, Milan, Italy., Vieites A; Centro de Investigaciones Endocrinológicas Buenos Aires, Buenos Aires, Argentina., de Vries L; The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel and Felsenstein Medical Research Center at Petach Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Yavas Abali Z; Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey., Span PN; Radiotherapy & OncoImmunology Laboratory, Department of Radiation Oncology, Radboudumc Graduate School, Radboud University Medical Center, Nijmegen, The Netherlands., Claahsen-van der Grinten HL; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2023 Oct 17; Vol. 189 (4), pp. 460-468.

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/genetics , Adrenal Rest Tumor*/epidemiology , Adrenal Rest Tumor*/etiology , Testicular Neoplasms*/epidemiology , Testicular Neoplasms*/complications, Adolescent ; Humans ; Male ; Cohort Studies ; Child

المؤلفون: Storbeck KH; Department of Biochemistry, Stellenbosch University, Stellenbosch, South Africa., O'Reilly MW; Department of Medicine, Royal College of Surgeons in Ireland, University of Medicine and Health Sciences, Dublin, Ireland.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2023 Apr 05; Vol. 188 (4), pp. R98-R109.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Ovary Syndrome* , Adrenal Hyperplasia, Congenital* , Prostatic Neoplasms*, Male ; Humans ; Female ; Androgens ; Testosterone ; Steroids

المؤلفون: Tschaidse L; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany., Reisch N; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany., Arlt W; Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, United Kingdom., Brac de la Perriere A; Hospices Civils de Lyon, Fédération d'Endocrinologie, Groupement hospitalier Est, Bron Cedex, France., Linden Hirschberg A; Department of Women's and Children's Health, Karolinska Institutet and Department of Gynecology and Reproductive Medicine, Karolinska University Hospital, Stockholm, Sweden., Juul A; Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Mallappa A; AstraZeneca, Gaithersburg, Maryland, United States.; National Institutes of Health Clinical Center, Bethesda, Maryland, United States., Merke DP; National Institutes of Health Clinical Center, Bethesda, Maryland, United States.; Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, United States., Newell-Price JDC; University of Sheffield, Sheffield, United Kingdom., Perry CG; Queen Elizabeth University Hospital, Glasgow, United Kingdom., Prete A; Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, United Kingdom., Rees DA; Neuroscience and Mental Health Research Institute, School of Medicine, Cardiff University, Cardiff, United Kingdom., Stikkelbroeck NMML; Radboud University Medical Center, Nijmegen, Netherlands., Touraine PA; University Hospitals Pitié Salpêtrière - Charles Foix, Center for Rare Endocrine and Gynecological Disorders, Paris, France., Coope H; Diurnal Ltd, Cardiff, United Kingdom., Porter J; Diurnal Ltd, Cardiff, United Kingdom., Ross RJM; University of Sheffield, Sheffield, United Kingdom., Quinkler M; Endocrinology in Charlottenburg, Berlin, Germany.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2023 Jan 10; Vol. 188 (1).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Hydrocortisone* , Adrenal Hyperplasia, Congenital*/drug therapy, Humans ; Renin ; Fludrocortisone/therapeutic use ; Glucocorticoids/therapeutic use ; 17-alpha-Hydroxyprogesterone ; Potassium ; Sodium

المؤلفون: Chasseloup F; Inserm, Université Paris-Saclay, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, 94270 Le Kremlin-Bicêtre, France., Regazzo D; Department of Medicine, Endocrinology Unit, University of Padova, 35128 Padova, Italy., Tosca L; AP-HP, Hôpital Antoine Béclère, Université Paris-Saclay, Service d'Histologie, Embryologie et Cytogénomique, 92140 Clamart, France., Proust A; AP-HP, Hôpital Bicêtre, Service de Génétique Moléculaire et d'Hormonologie, 94270 Le Kremlin Bicêtre, France., Kuhn E; AP-HP, Hôpital Pitié-Salpêtrière, Service de Neurochirurgie, 75013 Paris, France.; AP-HP, Hôpital Pitié-Salpêtrière, Unité Hypophyse, 75013 Paris, France., Hage M; Inserm, Université Paris-Saclay, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, 94270 Le Kremlin-Bicêtre, France., Jublanc C; AP-HP, Hôpital Pitié-Salpêtrière, Unité Hypophyse, 75013 Paris, France., Mokhtari K; AP-HP, Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, Inserm, CNRS, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Service de Neuropathologie, Onconeurothèque, 75013 Paris, France., Dalle Nogare M; Department of Biology, University of Padova, 35128 Padova, Italy., Avallone S; Department of Medicine, Endocrinology Unit, University of Padova, 35128 Padova, Italy., Ceccato F; Department of Medicine, Endocrinology Unit, University of Padova, 35128 Padova, Italy.; Endocrine Disease Unit, University-Hospital of Padova, 35128 Padova, Italy., Tachdjian G; AP-HP, Hôpital Antoine Béclère, Université Paris-Saclay, Service d'Histologie, Embryologie et Cytogénomique, 92140 Clamart, France., Salenave S; Inserm, Université Paris-Saclay, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, 94270 Le Kremlin-Bicêtre, France., Young J; Inserm, Université Paris-Saclay, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, 94270 Le Kremlin-Bicêtre, France., Gaillard S; AP-HP, Hôpital Pitié-Salpêtrière, Service de Neurochirurgie, 75013 Paris, France., Parker F; AP-HP, Hôpital Bicêtre, Service de Neurochirurgie, 94270 Le Kremlin-Bicêtre, France., Boch AL; AP-HP, Hôpital Pitié-Salpêtrière, Service de Neurochirurgie, 75013 Paris, France., Chanson P; Inserm, Université Paris-Saclay, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, 94270 Le Kremlin-Bicêtre, France., Bouligand J; AP-HP, Hôpital Antoine Béclère, Université Paris-Saclay, Service d'Histologie, Embryologie et Cytogénomique, 92140 Clamart, France.; AP-HP, Hôpital Bicêtre, Service de Génétique Moléculaire et d'Hormonologie, 94270 Le Kremlin Bicêtre, France.; Inserm, Physiologie et Physiopathologie Endocriniennes, Université Paris-Saclay, Le Kremlin-Bicêtre 94270, France., Occhi G; Department of Biology, University of Padova, 35128 Padova, Italy., Kamenický P; Inserm, Université Paris-Saclay, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, 94270 Le Kremlin-Bicêtre, France.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2024 Feb 01; Vol. 190 (2), pp. 173-181.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Pituitary Neoplasms*/pathology , Acromegaly*/metabolism , Somatotrophs*/metabolism , Somatotrophs*/pathology , Growth Hormone-Secreting Pituitary Adenoma*/metabolism , Adenoma*/pathology , Human Growth Hormone*/metabolism, Humans ; Comparative Genomic Hybridization ; Hyperplasia/pathology ; Cohort Studies ; Genotype ; Growth Hormone/metabolism ; Glucose ; Histone Demethylases/genetics ; Histone Demethylases/metabolism

المؤلفون: McGlacken-Byrne SM; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.; Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, London, UK., Abdelmaksoud A; International and Private Patient Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Haini M; Department of Histopathology, Great Ormond Street Hospital for Children, London, UK., Palm L; Department of Histopathology, Great Ormond Street Hospital for Children, London, UK., Ashworth M; Department of Histopathology, Great Ormond Street Hospital for Children, London, UK., Li J; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China., Wang W; Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China., Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China., Wang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China., Callaghan B; International and Private Patient Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Kinsler VA; Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, London, UK.; Department of Dermatology, Great Ormond Street Hospital for Children, London, UK.; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, UK., Faravelli F; North East Thames Regional Genetic Service, Great Ormond Street Hospital, London, UK., Dattani MT; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.; Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, London, UK.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2022 Dec 01; Vol. 187 (6), pp. K55-K61.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/genetics , Cushing Syndrome*/diagnosis , Mucinoses*/complications, Humans ; Cyclic AMP-Dependent Protein Kinase Catalytic Subunits/genetics ; Phenotype ; Infant