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Anna-Pauliina Iivonen Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

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Johanna Känsäkoski Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

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Atte Karppinen Department of Neurosurgery, Helsinki University Hospital, Helsinki, Finland

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Leena Kivipelto Department of Neurosurgery, Helsinki University Hospital, Helsinki, Finland

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Camilla Schalin-Jäntti Department of Endocrinology, Abdominal Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Auli Karhu Department of Medical and Clinical Genetics, RPU, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

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Taneli Raivio Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

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. Development of acromegaly is often insidious: most patients are diagnosed in their fifth decade of life with a median diagnostic delay of 4.5–5 years ( 3 ). Acromegaly patients have increased mortality compared to the general population ( 4 , 5

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0123
Volume/Issue:
Volume 7: Issue 5
Open access
Luca Persani Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Biagio Cangiano Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Marco Bonomi Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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gene defects can be a likely cause for mild idiopathic CeH discovered during adolescence or adulthood following an incidental biochemical finding of low free T4 (FT4). However, diagnostic and clinical management of CeH is still nowadays a

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0515
Volume/Issue:
Volume 8: Issue 2
Open access
Christin Krause Epigenetics & Metabolism, Medical Department I, University of Lübeck, Lübeck, Germany

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Martina Grohs Epigenetics & Metabolism, Medical Department I, University of Lübeck, Lübeck, Germany

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Alexander T El Gammal Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

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Stefan Wolter Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

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Hendrik Lehnert Medical Department I, University of Lübeck, Lübeck, Germany

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Oliver Mann Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

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Jens Mittag Molecular Endocrinology, Medical Department I, University of Lübeck, Lübeck, Germany

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Henriette Kirchner Epigenetics & Metabolism, Medical Department I, University of Lübeck, Lübeck, Germany

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(EIA-1781, DRG Diagnostics, Germany for T4 and DNOV053, NovaTec Immundiagnostica GmbH, Germany). RNA isolation and gene expression measurement by qPCR Whole-cell RNA was extracted from approximately 25 mg of snap frozen liver using the MiRNeasy

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0499
Volume/Issue:
Volume 7: Issue 12
Open access
Neil R Chappell Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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Beth Zhou Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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Amy K Schutt Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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William E Gibbons Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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Chellakkan S Blesson Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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16 weeks using the A1cNow+ test kit (PTS Diagnostics, Indianapolis, IN, USA) following the manufacturer’s instructions. Due to the sub-fertile nature of the animal model, in order to study the oocyte, it was necessary to perform superovulation to

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0553
Volume/Issue:
Volume 9: Issue 3
Open access
Yuan Zhou Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University, Ji-nan, China
Laboratory of Endocrinology, Medical Research Center, Shandong Provincial Qianfoshan Hospital, The First Affiliated Hospital of Shandong First Medical University, Ji-nan, China

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ShengNan Wang Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University, Ji-nan, China
Laboratory of Endocrinology, Medical Research Center, Shandong Provincial Qianfoshan Hospital, The First Affiliated Hospital of Shandong First Medical University, Ji-nan, China

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Jing Wu Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University, Ji-nan, China
Laboratory of Endocrinology, Medical Research Center, Shandong Provincial Qianfoshan Hospital, The First Affiliated Hospital of Shandong First Medical University, Ji-nan, China

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JianJun Dong Department of Endocrinology, Qilu Hospital of Shandong University, Ji-nan, China

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Lin Liao Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University, Ji-nan, China
Department of Endocrinology and Metabology, Shandong Provincial Qianfoshan Hospital, Cheeloo College of Medicine, Shandong University, Ji-nan, China

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gene mutations have been discovered with continuous research. MODY (maturity-onset diabetes of the young) refers to a heterogeneous group of monogenic forms of diabetes caused primarily by insulin secretion defects ( 1 ). It was first described as a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0074
Volume/Issue:
Volume 9: Issue 5
Open access
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 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 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 Pediatric Endocrinology, University of Minnesota Medical School, M Health Fairview Masonic Children’s Hospital, Minneapolis, Minnesota, United States

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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 Pediatric Diabetes and Endocrinology, University of Virginia, Charlottesville, Virginia, United States

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, 5 ). Conversely, the causes of adult-onset GHD (AO-GHD) are mainly due to hypothalamic–pituitary lesions and their associated treatment by surgery and/or radiotherapy ( 6 ), and performing diagnostic testing should only be limited to patients who are

Article Type:
Review Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0504
Volume/Issue:
Volume 12: Issue 7
Open access
Yan-yu Zhang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Xian Zhang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Shao-yang Bu Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Wei-wei Zhang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Tian-xiu Li Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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De-cai Zheng Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Ze-xiang Huang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Qian Wang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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(GenBank No.: MK368702) genes of yellowtail clownfish and listed in Table 1 . Fluorescent in situ hybridization (FISH) was provided by RNAscope® Multiplex Fluorescent Reagent Kit (Advanced Cell Diagnostics, Hayward, USA). Briefly, the cleared slices were

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0136
Volume/Issue:
Volume 11: Issue 8
Open access
Sara Ahmadi Division of Endocrinology, Thyroid Section, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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Iñigo Landa Division of Endocrinology, Thyroid Section, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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mutually exclusive mutations of BRAF , RAS or through gene rearrangements involving RET and other receptor tyrosine kinases (RTK) ( 2 ). Even though all these alterations activate MAPK signaling, BRAF -mutant, RAS -mutant, and RET -rearranged

Article Type:
Review Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-23-0297
Volume/Issue:
Volume 13: Issue 2
Open access
K G Samsom Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands

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L M van Veenendaal Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands

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G D Valk Department of Endocrine Oncology, University Medical Centre Utrecht, Utrecht, The Netherlands

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M R Vriens Department of Surgical Oncology and Endocrine Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands

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M E T Tesselaar Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands

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J G van den Berg Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands

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,000 individuals in 2012 ( 5 ). This progressive rise can mainly be contributed to more frequent use and improvements of diagnostic modalities or alterations in pathological disease definition ( 2 , 5 ). In the group of gastroenteropancreatic NETs, SI-NETs are

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0206
Volume/Issue:
Volume 8: Issue 7
Open access
Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Introduction Human 3beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations (ORPHA90791) ( 1 ). Sixty-one unrelated families have been published since

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0306
Volume/Issue:
Volume 7: Issue 3
Open access