All Stories

  1. Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders – Outcome After Hematopoietic Stem Cell Transplantation
  2. Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
  3. Treatment of congenital adrenal hyperplasia in children aged 0–3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure
  4. Exploring Dried Blood Spot Cortisol Concentrations as an Alternative for Monitoring Pediatric Adrenal Insufficiency Patients: A Model-Based Analysis
  5. Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol
  6. Reply: 68Ga NODAGA-Exendin-4 PET Scanning for Focal Congenital Hyperinsulinism: Need for Replication
  7. Severe Acquired Primary Hypothyroidism in Children and its Influence on Growth: A Retrospective Analysis of 43 Cases
  8. Rationale of a lower dexamethasone dose in prenatal congenital adrenal hyperplasia therapy based on pharmacokinetic modelling
  9. 68Ga-NODAGA-Exendin-4 PET/CT Improves the Detection of Focal Congenital Hyperinsulinism
  10. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry
  11. Neonatal Screening for Congenital Metabolic and Endocrine Disorders
  12. Open-Source Technology for Real-Time Continuous Glucose Monitoring in the Neonatal Intensive Care Unit: Case Study in a Neonate With Transient Congenital Hyperinsulinism
  13. Response to ‘Hydrocortisone suspension formulations are not necessarily the same in the treatment of children with congenital adrenal hyperplasia’
  14. Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration
  15. Paediatric population pharmacokinetic modelling to assess hydrocortisone replacement dosing regimens in young children
  16. Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia
  17. A Prospective Study of Children Aged 0–8 Years with CAH and Adrenal Insufficiency Treated with Hydrocortisone Granules
  18. Auswirkungen der SARS-CoV-2 Pandemie auf die Früherkennungs-Untersuchungen bei Kindern
  19. Comparative meta‐analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia
  20. Open-Source Technology for Real-Time Continuous Glucose Monitoring in the Neonatal Intensive Care Unit: Case Study in a Neonate With Transient Congenital Hyperinsulinism (Preprint)
  21. Hyperinsulinismus
  22. Therapeutische Optionen bei konnataler Zytomegalievirus (CMV)-Infektion – Implikationen für die Einführung eines Screeningprogramms
  23. Sleep Timing in Patients with Precocious and Delayed Pubertal Development
  24. Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism
  25. Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns
  26. MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency
  27. Mean High-Dose l-Thyroxine Treatment Is Efficient and Safe to Achieve a Normal IQ in Young Adult Patients With Congenital Hypothyroidism
  28. Hyperinsulinismus
  29. Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6)
  30. Absorption and tolerability of taste-masked hydrocortisone granules in neonates, infants and children under 6 years of age with adrenal insufficiency
  31. Real-life GH dosing patterns in children with GHD, TS or born SGA: a report from the NordiNet® International Outcome Study
  32. Quality of compounded hydrocortisone capsules used in the treatment of children
  33. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans
  34. Is safety of childhood growth hormone therapy related to dose? Data from a large observational study
  35. Functional Implications of LH/hCG Receptors in Pregnancy-Induced Cushing Syndrome
  36. How to improve information extraction from German medical records
  37. Positive correlation of thyroid hormones and serum copper in children with congenital hypothyroidism
  38. Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist
  39. Role of 68Ga somatostatin receptor PET/CT in the detection of endogenous hyperinsulinaemic focus: an explorative study
  40. Neuroendokrine Tumoren
  41. Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant
  42. Normative Thyroid-Stimulating Hormone Values for Healthy Nigerian Newborns
  43. Development and Testing in Healthy Adults of Oral Hydrocortisone Granules With Taste Masking for the Treatment of Neonates and Infants With Adrenal Insufficiency
  44. Management and interpretation of heterogeneous observational data: Using insulin-like growth factor-I data from the NordiNet® International Outcome Study
  45. Neugeborenenscreening: ein Paradebeispiel für effektive Sekundärprävention
  46. Towards the Development of Smart and Reliable Health Assistance Networks Exemplified by an Apnea Detection System
  47. Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by18F DOPA-PET/CT scanning
  48. Development of oral hydrocortisone granules with taste masking for the treatment of neonates and infants with adrenal insufficiency
  49. Medication safety study investigating hydrocortisone individually and extemporaneously compounded capsules for paediatric use in congenital adrenal hyperplasia
  50. Hyperinsulinaemic Hypoglycaemia
  51. European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism
  52. Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany
  53. Hydrocortisone Replacement in Disorders of Sex Development
  54. Data-Dependent Controller Synthesis to Enable Reliable and Safe Interoperability of Medical Devices
  55. Newborn Screening for Sickle Cell Disease: Technical and Legal Aspects of a German Pilot Study with 38,220 Participants
  56. Zum aktuellen Stand der Kindervorsorgeprogramme
  57. Two Novel GATA6 Mutations Cause Childhood-Onset Diabetes Mellitus, Pancreas Malformation and Congenital Heart Disease
  58. Comparison of response to 2-years’ growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observa...
  59. Does the aromatic l-amino acid decarboxylase contribute to thyronamine biosynthesis?
  60. Gender Influences Short-Term Growth Hormone Treatment Response in Children
  61. The Heterogeneity of Focal Forms of Congenital Hyperinsulinism
  62. Long-Term Lanreotide Treatment in Six Patients with Congenital Hyperinsulinism
  63. Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals
  64. Long-Term GH Treatment Response in Short Children Born SGA Is Comparable to That in GHD Children: Data from the NordiNet® IOS
  65. Intraoperative Sonography: A Technique for Localizing Focal Forms of Congenital Hyperinsulinism in the Pancreas
  66. Positron emission tomography/computed tomography diagnostics by means of fluorine-18-L-dihydroxyphenylalanine in congenital hyperinsulinism
  67. Visualization of the focus in congenital hyperinsulinism by intraoperative sonography
  68. Familial Focal Congenital Hyperinsulinism
  69. Neuroendokrine Tumoren
  70. Harmonization of growth hormone measurements with different immunoassays by data adjustment
  71. The predictive value of preoperative fluorine-18-l-3,4-dihydroxyphenylalanine positron emission tomography–computed tomography scans in children with congenital hyperinsulinism of infancy
  72. Treating patients not numbers: the benefit and burden of lowering TSH newborn screening cut-offs
  73. Congenital hyperinsulinism
  74. P31 Earlier start of puberty in GH treated children born SGA than in GH treated for GHD. Data from the NordiNet® IOS
  75. Gründung der Sektion „Endokrinologische Laboratoriumsdiagnostik“ der DGKL
  76. Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas
  77. Sedierung von Kindern zum PET-CT bei kongenitalem Hyperinsulinismus
  78. Gelbfärbung der Haut, Muskelschwäche und Niereninsuffizienz
  79. Evaluation of [18F]Fluoro-l-DOPA Positron Emission Tomography-Computed Tomography for Surgery in Focal Congenital Hyperinsulinism
  80. EDTA in Dried Blood Spots Leads to False Results in Neonatal Endocrinologic Screening
  81. Height Gain with Combined Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Two Pubertal Siblings with a Growth Hormone-Releasing Hormone Receptor Mutation
  82. Long-Term Non-Surgical Therapy of Severe Persistent Congenital Hyperinsulinism with Glucagon
  83. [<sup>18</sup>F]-DOPA Positron Emission Tomography for Preoperative Localization in Congenital Hyperinsulinism
  84. Early Glibenclamide Treatment in Newborns with KCNJ11 Gene Mutation
  85. Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas
  86. Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management
  87. Somatostatin or octreotide as treatment options for chylothorax in young children: a systematic review
  88. Molecular Mechanisms of Neonatal Hyperinsulinism
  89. Proposal for a Standardized Protocol for <sup>18</sup>F-DOPA-PET (PET/CT) in Congenital Hyperinsulinism
  90. Auffällige Fazies mit Mikrozephalie bei intrauteriner Clozapinexposition
  91. Type 2 diabetes and impaired glucose tolerance in European children and adolescents with obesity -- a problem that is no longer restricted to minority groups
  92. Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation
  93. Longitudinal Imaging Reveals Pituitary Enlargement Preceding Hypoplasia in Two Brothers with Combined Pituitary Hormone Deficiency Attributable to PROP1 Mutation
  94. A New C-Terminal Located Mutation (V272ter) in the <i>PIT-1 </i>Gene Manifesting with Severe Congenital Hypothyroidism
  95. Genetic Defects during Later Stages of Pituitary Development: The Clinical Phenotype of Pit-1 and Prop-1 Mutations
  96. Hormonelle Wachstumsstörungen
  97. Idiopathic Growth Hormone Deficiency: A Vanishing Diagnosis?
  98. Molecular characterization of the cfb gene encoding group B streptococcal CAMP-factor
  99. Planungsunterstützung für Pankreasoperationen bei Hyperinsulinismus von Kindern