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Isabelle Flechtner Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Magali Viaud Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Dulanjalee Kariyawasam Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Marie Perrissin-Fabert Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Maud Bidet Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Anne Bachelot Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Philippe Touraine Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Philippe Labrune Department of Pediatrics, APHP, Centre de Référence des Maladies héréditaires du Métabolisme Hépatique, Hopital Antoine Béclère and Paris Sud University, Clamart, France

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Pascale de Lonlay Reference Center of Inherited Metabolic Diseases, Université de Paris, Necker Enfants Malades, University Hospital, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France

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Michel Polak Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France

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was defined as absence of breast development at 13 years of age or absence of testes enlargement at 14 years of age ( 25 ). Primary amenorrhea was absence of menarche at 16 years of age. POI was defined by FSH level greater than 20 IU/L before 40 years

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0013
Volume/Issue:
Volume 10: Issue 2
Open access
Qianqian Pang Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China
Musculoskeletal Research Laboratory and Bone Quality and Health Assessment Centre, Department of Orthopedics & Traumatology, The Chinese University of Hong Kong, Hong Kong SAR, Hong Kong

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Yuping Xu Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China
Department of Endocrinology, The First Affiliated Hospital of Shanxi Medical University, Taiyuan, Shanxi, China

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Xuan Qi Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China

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Yan Jiang Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China

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Ou Wang Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China

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Mei Li Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China

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Xiaoping Xing Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China

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Ling Qin Musculoskeletal Research Laboratory and Bone Quality and Health Assessment Centre, Department of Orthopedics & Traumatology, The Chinese University of Hong Kong, Hong Kong SAR, Hong Kong

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Weibo Xia Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China

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for prostaglandin degradation. Numerous studies have demonstrated a tumor suppressor activity of 15-PGDH in a number of different tumors, such as lung, bladder and breast cancer ( 16 , 17 , 18 ). Whereas, to date, no HPGD -mutated PHO patients

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0149
Volume/Issue:
Volume 8: Issue 6
Open access
Louise Vølund Larsen Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark

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Delphine Mirebeau-Prunier Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers, Université d’Angers, UMR CNRS 6015, INSERM U1083, MITOVASC, Angers, France

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Tsuneo Imai Department of Breast & Endocrine Surgery, National Hospital Organization, Higashinagoya National Hospital

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Cristina Alvarez-Escola Endocrinology and Nutrition Department, University Hospital ‘La Paz’, Madrid, Spain

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Kornelia Hasse-Lazar Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland

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Simona Censi Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Luciana A Castroneves Department of Endocrinology, Endocrine Oncology Unit, Instituto do Cancer do Estado de São Paulo, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil

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Akihiro Sakurai Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan

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Minoru Kihara Department of Surgery, Kuma Hospital, Kobe, Hyogo, Japan

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Kiyomi Horiuchi Department of Breast and Endocrine Surgery, Tokyo Women’s Medical University, Tokyo, Japan

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Véronique Dorine Barbu AP-HP, Sorbonne Université, Laboratoire Commun de Biologie et Génétique Moléculaires, Hôpital St Antoine & INSERM CRSA, Paris, France
Réseau TenGen, Marseille, France

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Francoise Borson-Chazot Réseau TenGen, Marseille, France
Fédération d’Endocrinologie, Hospices Civils de Lyon, Université Lyon 1, France

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Anne-Paule Gimenez-Roqueplo Réseau TenGen, Marseille, France
Service de Génétique, AP-HP, Hôpital européen Georges Pompidou, Paris, France
Université de Paris, PARCC, INSERM, Paris, France

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Pascal Pigny Réseau TenGen, Marseille, France
Laboratoire de Biochimie et Oncologie Moléculaire, CHU Lille, Lille, France

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Stephane Pinson Réseau TenGen, Marseille, France
Laboratoire de Génétique Moléculaire, CHU Lyon, Lyon, France

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Nelson Wohllk Endocrine Section, Hospital del Salvador, Santiago de Chile, Department of Medicine, University of Chile, Santiago, Chile

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Charis Eng Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA

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Berna Imge Aydogan Department of Endocrinology And Metabolic Diseases, Ankara University School of Medicine, Ankara, Turkey

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Dhananjaya Saranath Department of Research Studies & Additional Projects, Cancer Patients Aid Association, Dr. Vithaldas Parmar Research & Medical Centre, Worli, Mumbai, India

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Sarka Dvorakova Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic

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Frederic Castinetti Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France
Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille (AP-HM), Hôpital de la Conception, Centre de Référence des Maladies Rares de l’hypophyse HYPO, Marseille, France

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Attila Patocs HAS-SE Momentum Hereditary Endocrine Tumors Research Group, Semmelweis University, Budapest, Hungary

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Damijan Bergant Department of Surgical Oncology, Institute of Oncology, Ljubljana, Slovenia

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Thera P Links Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands

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Mariola Peczkowska Department of Hypertension, Institute of Cardiology, Warsaw, Poland

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Ana O Hoff Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands

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Caterina Mian Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Trisha Dwight Cancer Genetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia

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Barbara Jarzab Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland

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Hartmut P H Neumann Section for Preventive Medicine, Medical Center-University of Freiburg, Faculty of Medicine, Albert Ludwigs-University of Freiburg, Freiburg, Germany

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Mercedes Robledo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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Shinya Uchino Department of Endocrine Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita, Japan

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Anne Barlier Réseau TenGen, Marseille, France
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France

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Christian Godballe Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark

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Jes Sloth Mathiesen Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark
Department of Clinical Research, University of Southern Denmark, Odense, Denmark

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Objective

Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases.

Design and methods

An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centers all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017.

Results

Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4–1.6). 9/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1/10 was diagnosed 15 years after parathyroid surgery. 7/9 cases with full TNM data were node-positive at MTC diagnosis.

Conclusions

Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation have synchronous MTC and are often node-positive. Thus, our observations suggest that not performing RET mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false-negative rate, if no other MEN 2A component, specifically MTC, are found during work-up or resection of PHPT.

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0163
Volume/Issue:
Volume 9: Issue 6
Open access
Ichelle Maa van Roessel Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, AB Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, AB Utrecht, The Netherlands

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Boudewijn Bakker Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, AB Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, AB Utrecht, The Netherlands

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Hanneke M van Santen Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, AB Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, AB Utrecht, The Netherlands

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Wassim Chemaitilly Division of Pediatric Endocrinology, UPMC Children’s Hospitalof Pittsburgh, Pittsburgh, Pennsylvania, USA

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complete remission after careful and individualized analysis of the risks and benefits, with additional caution in patients treated for certain solid tumors (breast, prostate, colon and liver) deemed at higher risk of recurrence ( 6 ). The benefits of hGH

Article Type:
Review Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0382
Volume/Issue:
Volume 12: Issue 1
Open access
Dirk-Jan van Beek Department of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands

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Rachel S van Leeuwaarde Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands

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Carolina R C Pieterman Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands

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Menno R Vriens Department of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands

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Gerlof D Valk Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
Parelsnoer Institute, Utrecht, The Netherlands

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the DutchMEN Study Group
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tumors (NETs) of thymic, bronchial or gastric origin, skin and subcutaneous tumors, smooth muscle tumors and breast cancer ( 5 , 6 ). Life expectancy of MEN1 patients is reduced compared to the general population ( 4 ). The prognosis of patients depends

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0359
Volume/Issue:
Volume 7: Issue 11
Open access
Konstantin Yakimchuk Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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Chandrashekar Bangalore Revanna Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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Dan Huang Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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Jose Inzunza Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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Sam Okret Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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the reproductive tissues thereby promoting a pro-carcinogenic activity, the effects of ESR2 appear to be more complex since ESR2 e.g. shows anti-proliferative and pro-apoptotic activities on breast and prostate tumor cells ( 3 , 4 ), but can decrease

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0459
Volume/Issue:
Volume 7: Issue 12
Open access
Luminita Nicoleta Cima Carol Davila University of Medicine and Pharmacy, Bucharest, Romania

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Anca Colita Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
Hematology Department, Fundeni Hospital, Bucharest, Romania

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Simona Fica Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
Endocrine Department, Elias Hospital, Bucharest, Romania

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Resumption of menses, spontaneous ovulation, PR  Munhoz, 2016 856 BC Resumption of regular menses, PR Contra  Elgindy, 2015 907 Various Resumption of menstruation, ovarian reserve, PR BC, breast cancer; HL, Hodgkin

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-17-0246
Volume/Issue:
Volume 6: Issue 8
Open access
Stefan Schulz
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Anika Mann
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Benjamin Novakhov
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Hugh D Piggins Institute of Pharmacology and Toxicology, Faculty of Life Sciences, Jena University Hospital, Friedrich Schiller University Jena, Drackendorfer Straße 1, D-07747 Jena, Germany

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Amelie Lupp
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tumours, including breast, ovarian, prostate, pancreas and colon carcinomas, insulinoma, carcinoid, glioblastoma, meningioma, pituitary adenoma and pheochromocytoma (4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14) . More recent studies have shown that VIP

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0051
Volume/Issue:
Volume 4: Issue 1
Open access
Meihua Jin Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Woo Kyung Lee Laboratory of Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Mi-Hyeon You Asan Institute of Life Science, Asan Medical Center, Seoul, Korea

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Ahreum Jang Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Sheue-yann Cheng Laboratory of Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Won Gu Kim Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Min Ji Jeon Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Yu-Mi Lee Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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therapeutic value for many cancers, such as hepatic carcinoma, breast cancer, prostate cancer, and glioma ( 12 , 13 , 14 , 15 ). However, due to a lack of investigation, it remains unclear whether SHMT2 has a similar prognostic role in thyroid cancer. In

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0135
Volume/Issue:
Volume 10: Issue 6
Open access
Linfei Yang Center for Medical Experiments, The Third Xiangya Hospital, Central South University, Changsha, China

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Xiao Yu Department of General Surgery, The Third Xiangya Hospital, Central South University, Changsha, China

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Yongchao Yang Department of Burns and Plastic Surgery, The Third Xiangya Hospital, Central South University, Changsha, China
European Pancreas Center, Department of General, Visceral and Transplantation Surgery, Heidelberg University Hospital, Heidelberg, Germany

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regulating growth, survival, differentiation and pathogen resistance ( 14 ). Constitutive activation of the STAT3 signalling pathway has been observed in several human cancers, including breast cancer, multiple myeloma, head and neck cancer, ovarian cancer

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0356
Volume/Issue:
Volume 7: Issue 12
Open access