Filter

Refine by collections

Refine by date

—
  • Print
  • Save

Search Results

You are looking at 11 - 20 of 56 items for :

  • newborn screening x
Clear All
E Kohva Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

Search for other papers by E Kohva in
Google Scholar
PubMed Close
,
P J Miettinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

Search for other papers by P J Miettinen in
Google Scholar
PubMed Close
,
S Taskinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

Search for other papers by S Taskinen in
Google Scholar
PubMed Close
,
M Hero Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

Search for other papers by M Hero in
Google Scholar
PubMed Close
,
A Tarkkanen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

Search for other papers by A Tarkkanen in
Google Scholar
PubMed Close
, and
T Raivio Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

Search for other papers by T Raivio in
Google Scholar
PubMed Close

expectedly the most common cause of 46,XX DSD. After the implementation of the newborn screening in Finland in 2015, six new CAH patients have been diagnosed by it. We anticipate that screening leads to better diagnostic yield and conceivably better care for

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0070
Volume/Issue:
Volume 7: Issue 4
Open access
Mohamed Hssaini Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco
Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco

Search for other papers by Mohamed Hssaini in
Google Scholar
PubMed Close
,
Sana Abourazzak Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco

Search for other papers by Sana Abourazzak in
Google Scholar
PubMed Close
,
Ihsane El Otmani Laboratory of Health Sciences and Technologies, Higher Institute of Health Sciences, Hassan First University of Settat, Morocco

Search for other papers by Ihsane El Otmani in
Google Scholar
PubMed Close
,
Mohamed Ahakoud Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco

Search for other papers by Mohamed Ahakoud in
Google Scholar
PubMed Close
,
Amina Ameli Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco

Search for other papers by Amina Ameli in
Google Scholar
PubMed Close
,
Laila Bouguenouch Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco

Search for other papers by Laila Bouguenouch in
Google Scholar
PubMed Close
, and
Hicham Bekkari Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco

Search for other papers by Hicham Bekkari in
Google Scholar
PubMed Close

.1016/j.juro.2013.09.058 ) 10 Pang SY Wallace MA Hofman L Thuline HC Dorche C Lyon IC Dobbins RH Kling S Fujieda K & Suwa S . Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-24-0236
Volume/Issue:
Volume 13: Issue 10
Open access
Heike Hoyer-Kuhn Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany

Search for other papers by Heike Hoyer-Kuhn in
Google Scholar
PubMed Close
,
Angela Huebner Department of Paediatrics, University Children’s Hospital Dresden, Dresden, Germany

Search for other papers by Angela Huebner in
Google Scholar
PubMed Close
,
Anette Richter-Unruh University Children’s Hospital Bochum, Bochum, Nordrhein-Westfalen, Germany

Search for other papers by Anette Richter-Unruh in
Google Scholar
PubMed Close
,
Markus Bettendorf University Children’s Hospital Heidelberg, Heidelberg, Germany

Search for other papers by Markus Bettendorf in
Google Scholar
PubMed Close
,
Tilman Rohrer University Children’s Hospital Homburg, Homburg, Germany

Search for other papers by Tilman Rohrer in
Google Scholar
PubMed Close
,
Klaus Kapelari University Children’s Hospital Innsbruck, Innsbruck, Austria

Search for other papers by Klaus Kapelari in
Google Scholar
PubMed Close
,
Stefan Riedl Department of Pediatric, Medical University of Vienna, Vienna, Austria
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria

Search for other papers by Stefan Riedl in
Google Scholar
PubMed Close
,
Klaus Mohnike Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

Search for other papers by Klaus Mohnike in
Google Scholar
PubMed Close
,
Helmuth-Günther Dörr University Children’s Hospital Erlangen, Erlangen, Germany

Search for other papers by Helmuth-Günther Dörr in
Google Scholar
PubMed Close
,
Friedrich-Wilhelm Roehl Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

Search for other papers by Friedrich-Wilhelm Roehl in
Google Scholar
PubMed Close
,
Katharina Fink Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

Search for other papers by Katharina Fink in
Google Scholar
PubMed Close
,
Reinhard W Holl Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

Search for other papers by Reinhard W Holl in
Google Scholar
PubMed Close
, and
Joachim Woelfle University Children’s Hospital Erlangen, Erlangen, Germany

Search for other papers by Joachim Woelfle in
Google Scholar
PubMed Close

(introduction of neonatal screening in most regions)) were compared to assess the influence of the nationwide neonatal CAH screening and ensuing treatment recommendations. Patients and methods The AQUAPE (Arbeitsgemeinschaft für Qualitätssicherung in der

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0023
Volume/Issue:
Volume 10: Issue 5
Open access
Susan M Webb IIB-Sant Pau, Research Center for Pituitary Diseases, Barcelona, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Unidad 747), ISCIII, Spain
Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Department of Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain

Search for other papers by Susan M Webb in
Google Scholar
PubMed Close
,
Jette Kristensen ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark

Search for other papers by Jette Kristensen in
Google Scholar
PubMed Close
,
Anna Nordenström Pediatric Endocrinology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Anna Nordenström in
Google Scholar
PubMed Close
,
Diana Vitali ePAG & Chair SOD ITALIA - Italian Patients Organization for Septo Optic Dysplasia and other Neuroendocrine Conditions, Rome, Italy

Search for other papers by Diana Vitali in
Google Scholar
PubMed Close
,
Vincent Amodru Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France

Search for other papers by Vincent Amodru in
Google Scholar
PubMed Close
,
Lenja Katharina Wiehe EURORDIS - Rare Diseases Europe, Paris, France

Search for other papers by Lenja Katharina Wiehe in
Google Scholar
PubMed Close
, and
Matt Bolz-Johnson EURORDIS - Rare Diseases Europe, Paris, France

Search for other papers by Matt Bolz-Johnson in
Google Scholar
PubMed Close

, while the newborn and father were taken to the neonatal ICU facilities. A boy identified via neonatal screening was reported by the parents. Symptoms of irritability and insufficient weight gain did not give the diagnosis before the screening result at

Article Type:
Review Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0385
Volume/Issue:
Volume 11: Issue 12
Open access
Huma Qamar Centre for Global Child Health, Hospital for Sick Children, Toronto, Ontario, Canada
Department of Nutritional Sciences, University of Toronto, Toronto, Ontario, Canada

Search for other papers by Huma Qamar in
Google Scholar
PubMed Close
,
Nandita Perumal Centre for Global Child Health, Hospital for Sick Children, Toronto, Ontario, Canada
Department of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada

Search for other papers by Nandita Perumal in
Google Scholar
PubMed Close
,
Eszter Papp Centre for Global Child Health, Hospital for Sick Children, Toronto, Ontario, Canada

Search for other papers by Eszter Papp in
Google Scholar
PubMed Close
,
Alison D Gernand Department of Nutritional Sciences, Pennsylvania State University, University Park, Pennsylvania, USA

Search for other papers by Alison D Gernand in
Google Scholar
PubMed Close
,
Abdullah Al Mahmud Nutrition and Clinical Services Division, International Centre for Diarrhoeal Disease Research (icddr,b), Dhaka, Bangladesh

Search for other papers by Abdullah Al Mahmud in
Google Scholar
PubMed Close
, and
Daniel E Roth Centre for Global Child Health, Hospital for Sick Children, Toronto, Ontario, Canada
Department of Nutritional Sciences, University of Toronto, Toronto, Ontario, Canada
Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

Search for other papers by Daniel E Roth in
Google Scholar
PubMed Close

: risk factors for and prognosis of newborns with stunting or wasting . JAMA Pediatrics 2015 169 e151431. ( https://doi.org/10.1001/jamapediatrics.2015.1431 ) 8 Ott WJ Fetal femur length, neonatal crown-heel length, and screening for

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0056
Volume/Issue:
Volume 10: Issue 3
Open access
Julia Beckhaus Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany
Division of Epidemiology and Biometry, Carl von Ossietzky University, Oldenburg, Germany

Search for other papers by Julia Beckhaus in
Google Scholar
PubMed Close
,
Svenja Boekhoff Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

Search for other papers by Svenja Boekhoff in
Google Scholar
PubMed Close
,
Katrin Scheinemann Pediatric Hematology-Oncology Center, Children’s Hospital of Eastern Switzerland, St. Gallen, Switzerland
Faculty of Health Sciences and Medicine, University of Lucerne, Lucerne, Switzerland
Department of Pediatrics, McMaster Children’s Hospital and McMaster University, Hamilton, Ontario, Canada

Search for other papers by Katrin Scheinemann in
Google Scholar
PubMed Close
,
Freimut H Schilling Department of Pediatrics, Division of Pediatric Hematology and Oncology, Children’s Hospital Lucerne, Lucerne, Switzerland

Search for other papers by Freimut H Schilling in
Google Scholar
PubMed Close
,
Gudrun Fleischhack Pediatrics III, University Hospital of Essen, Essen, Germany

Search for other papers by Gudrun Fleischhack in
Google Scholar
PubMed Close
,
Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University Tübingen, Tübingen, Germany

Search for other papers by Gerhard Binder in
Google Scholar
PubMed Close
,
Brigitte Bison Diagnostic and Interventional Neuroradiology, Faculty of Medicine, University of Augsburg, Augsburg, Germany

Search for other papers by Brigitte Bison in
Google Scholar
PubMed Close
,
Torsten Pietsch Institute of Neuropathology, DGNN Brain Tumor Reference Center, University of Bonn Medical Center, Bonn, Germany

Search for other papers by Torsten Pietsch in
Google Scholar
PubMed Close
,
Carsten Friedrich Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

Search for other papers by Carsten Friedrich in
Google Scholar
PubMed Close
, and
Hermann L Müller Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

Search for other papers by Hermann L Müller in
Google Scholar
PubMed Close

screening during pregnancy, the incidence of tumors discovered during fetal life has increased ( 8 ). CP is located in close proximity to the hypothalamus and the pituitary gland. Infiltration and displacement of both structures result in hormonal

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0294
Volume/Issue:
Volume 12: Issue 12
Open access
R Walia Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

Search for other papers by R Walia in
Google Scholar
PubMed Close
,
M Singla Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

Search for other papers by M Singla in
Google Scholar
PubMed Close
,
K Vaiphei Department of Histopathology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

Search for other papers by K Vaiphei in
Google Scholar
PubMed Close
,
S Kumar Department of Urology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

Search for other papers by S Kumar in
Google Scholar
PubMed Close
, and
A Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

Search for other papers by A Bhansali in
Google Scholar
PubMed Close

46,XY DSD had either androgen insensitivity syndrome or 5α-reductase deficiency. Congenital adrenal hyperplasia is the most common cause for DSD worldwide. It is usually diagnosed at birth during routine new-born screening with estimation of 17

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0022
Volume/Issue:
Volume 7: Issue 2
Open access
Yusen Liu Department of Cooperation and Communication, The First Clinical Medical College & The First Affiliated Hospital of Wenzhou Medical University, Wenzhou Medical University, Wenzhou, China

Search for other papers by Yusen Liu in
Google Scholar
PubMed Close
,
Ruiwen Chi Department of Cooperation and Communication, The First Clinical Medical College & The First Affiliated Hospital of Wenzhou Medical University, Wenzhou Medical University, Wenzhou, China

Search for other papers by Ruiwen Chi in
Google Scholar
PubMed Close
,
Yujie Jiang School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou, China

Search for other papers by Yujie Jiang in
Google Scholar
PubMed Close
,
Bicheng Chen Department of Cooperation and Communication, The First Clinical Medical College & The First Affiliated Hospital of Wenzhou Medical University, Wenzhou Medical University, Wenzhou, China

Search for other papers by Bicheng Chen in
Google Scholar
PubMed Close
,
Youli Chen Wuhan Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

Search for other papers by Youli Chen in
Google Scholar
PubMed Close
, and
Zengrui Chen Intensive Care Unit, The People’s Hospital of Yuhuan, Yuhuan, China

Search for other papers by Zengrui Chen in
Google Scholar
PubMed Close

( 6 ). Thus, a new early screening method for GDM is warranted, especially in high-risk groups. Available evidence suggests that the main pathogenesis of GDM is related to decreased insulin secretion and increased insulin resistance (IR) during

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0234
Volume/Issue:
Volume 10: Issue 11
Open access
Kjersti S Bakken Women’s Clinic, Innlandet Hospital Trust, Lillehammer, Norway
Center for International Health, University of Bergen, Bergen, Norway

Search for other papers by Kjersti S Bakken in
Google Scholar
PubMed Close
,
Kristina Randjelovic Nermo Center for International Health, University of Bergen, Bergen, Norway
Department of Microbiology, Innlandet Hospital Trust, Lillehammer, Norway

Search for other papers by Kristina Randjelovic Nermo in
Google Scholar
PubMed Close
,
Bjørn Gunnar Nedrebø Department of Medicine, Haugesund Hospital, Haugesund, Norway
Department of Clinical Science, University of Bergen, Bergen, Norway

Search for other papers by Bjørn Gunnar Nedrebø in
Google Scholar
PubMed Close
,
Tim I M Korevaar Academic Center for Thyroid Diseases, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Tim I M Korevaar in
Google Scholar
PubMed Close
, and
Tor A Strand Center for International Health, University of Bergen, Bergen, Norway
Department of Research, Innlandet Hospital Trust, Lillehammer, Norway

Search for other papers by Tor A Strand in
Google Scholar
PubMed Close

screening efforts ( 2 ). It remains unknown if levothyroxine therapy for mild forms of thyroid hypofunction has any beneficial effects. Yet, recent insights have suggested that the definition of thyroid dysfunction in guidelines published before 2017 has

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-21-0631
Volume/Issue:
Volume 11: Issue 4
Open access
Carina Ankarberg-Lindgren Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

Search for other papers by Carina Ankarberg-Lindgren in
Google Scholar
PubMed Close
,
Aneta Gawlik Department of Pediatrics and Pediatric Endocrinology, Medical University of Silesia, School of Medicine, Katowice, Poland

Search for other papers by Aneta Gawlik in
Google Scholar
PubMed Close
,
Berit Kriström Department of Clinical Sciences/Pediatrics, Umeå University, Umeå, Sweden

Search for other papers by Berit Kriström in
Google Scholar
PubMed Close
,
Laura Mazzanti Pediatric Endocrinology and Rare Disease Unit, Department of Medical and Surgical Science, University of Bologna, Bologna, Italy

Search for other papers by Laura Mazzanti in
Google Scholar
PubMed Close
,
Elisabeth J Ruijgrok Department of Pharmacy, Erasmus Medical Center – Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands

Search for other papers by Elisabeth J Ruijgrok in
Google Scholar
PubMed Close
, and
Theo C J Sas Department of Pediatric Endocrinology, Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands
Diabeter, National Diabetes Care and Research Center, Rotterdam, the Netherlands

Search for other papers by Theo C J Sas in
Google Scholar
PubMed Close

attached to a filter paper (Whatman 903 for newborn screening; PerkinElmer). Thereafter, patches were cut with scissors into between two to eight equal pieces, depending on the size and shape of the patch ( Fig. 2 ). For Estradot, four patches were used in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0025
Volume/Issue:
Volume 8: Issue 4
Open access