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newborn screening x

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Perinatally diagnosed congenital craniopharyngiomas in the KRANIOPHARYNGEOM trials

Julia Beckhaus

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

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Svenja Boekhoff

Svenja Boekhoff Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

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Katrin Scheinemann

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

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Freimut H Schilling

Freimut H Schilling Department of Pediatrics, Division of Pediatric Hematology and Oncology, Children’s Hospital Lucerne, Lucerne, Switzerland

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Gudrun Fleischhack

Gudrun Fleischhack Pediatrics III, University Hospital of Essen, Essen, Germany

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Gerhard Binder

Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University Tübingen, Tübingen, Germany

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Brigitte Bison

Brigitte Bison Diagnostic and Interventional Neuroradiology, Faculty of Medicine, University of Augsburg, Augsburg, Germany

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Torsten Pietsch

Torsten Pietsch Institute of Neuropathology, DGNN Brain Tumor Reference Center, University of Bonn Medical Center, Bonn, Germany

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Carsten Friedrich

Carsten Friedrich Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

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Hermann L Müller

Hermann L Müller Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

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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

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism

Ja Hye Kim

Ja Hye Kim Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi

Yunha Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang

Soojin Hwang Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Ji-Hee Yoon

Ji-Hee Yoon Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jieun Lee

Jieun Lee Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea

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Min Jae Kang

Min Jae Kang Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea

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Gu-Hwan Kim

Gu-Hwan Kim Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Han-Wook Yoo

Han-Wook Yoo Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jin-Ho Choi

Jin-Ho Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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newborn patient, the complete deletion of ANOS1 was detected by G-scanning, a commercial genetic screening test that uses a single nucleotide polymorphism (SNP) array (Boryung Biopharma Co., Seoul, Korea). Re-validation of the CNVs was performed using a

Article Type:: Research Article

Collections:: Pituitary and Hypothalamus

DOI:: https://doi.org/10.1530/EC-22-0413

Volume/Issue:: Volume 12: Issue 5

Open access

Diagnosis and testing for growth hormone deficiency across the ages: a global view of the accuracy, caveats, and cut-offs for diagnosis

Kevin C J Yuen

Kevin C J Yuen Departments of Neuroendocrinology and Neurosurgery, Barrow Neurological Institute, University of Arizona College of Medicine and Creighton School of Medicine, Phoenix, Arizona, United States

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Gudmundur Johannsson

Gudmundur Johannsson Department of Endocrinology, Sahlgrenska University Hospital and Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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Ken K Y Ho

Ken K Y Ho The Garvan Institute of Medical Research and the Faculty of Medicine, University of New South Wales, Sydney, Australia

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Bradley S Miller

Bradley S Miller Pediatric Endocrinology, University of Minnesota Medical School, M Health Fairview Masonic Children’s Hospital, Minneapolis, Minnesota, United States

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Ignacio Bergada

Ignacio Bergada Centro de Investigaciones Endocrinológicas "Dr César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina

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Alan D Rogol

Alan D Rogol Pediatric Diabetes and Endocrinology, University of Virginia, Charlottesville, Virginia, United States

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are not without their caveats. Although IGF1 levels reflect the integrated levels of GH, there remain substantial problems when used as a screening test as these levels tend to be low early in life, rise in adolescence, and decline throughout adulthood