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Lukas Plachy Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Lenka Petruzelkova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Petra Dusatkova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Klara Maratova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Dana Zemkova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Lenka Elblova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Vit Neuman Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Stanislava Kolouskova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Barbora Obermannova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Marta Snajderova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Zdenek Sumnik Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Jan Lebl Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Stepanka Pruhova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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normally, and they may focus on possible hidden comorbidities associated with the genetic finding (e.g. congenital heart defect in Noonan syndrome or early osteoarthritis in ACAN gene mutations) ( 2 , 13 , 35 ). However, the treatment implications of

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0238
Volume/Issue:
Volume 12: Issue 10
Open access
Peter Bond Department of Internal Medicine, Elisabeth TweeSteden Hospital, Tilburg, the Netherlands
Department of Performance and Image-enhancing Drugs Research, Android Health Clinic, Utrecht, the Netherlands

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Tijs Verdegaal Department of Internal Medicine, Elisabeth TweeSteden Hospital, Tilburg, the Netherlands
Department of Internal Medicine, Spaarne Gasthuis, Haarlem, the Netherlands

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Diederik L Smit Department of Internal Medicine, Elisabeth TweeSteden Hospital, Tilburg, the Netherlands
Department of Performance and Image-enhancing Drugs Research, Android Health Clinic, Utrecht, the Netherlands

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thrombotic risk ( 14 ). For example, Chuvash erythrocytosis is a congenital disorder caused by a missense mutation in the VHL gene. This impairs the rate at which the VHL complex ubiquitylates HIF-α ( 51 ). HIF-α therefore accumulates, which leads to

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-24-0283
Volume/Issue:
Volume 13: Issue 10
Open access
Hana Vítková Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Kateřina Anderlová Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
Department of Gynaecology, Obstetrics and Neonatology, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague, Czech Republic

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Jan Krátký Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Radovan Bílek Institute of Endocrinology, Prague, Czech Republic

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Drahomíra Springer Institute of Clinical Biochemistry and Laboratory Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Felix Votava Department of Children and Adolescents, Third Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic

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Tomáš Brutvan Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Adéla Krausová Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Kristýna Žabková Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Eliška Potluková University Center of Internal Medicine, Cantonal Hospital Baselland and University of Basel, Switzerland

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Jan Jiskra Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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newborns (115 newborns of women with GDM and 39 controls) utilizing data from the national register of screening for congenital hypothyroidism. The study protocol was approved by the Ethics Committee of the General University Hospital in Prague. All women

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-24-0295
Volume/Issue:
Volume 13: Issue 11
Open access
Efstratios Kardalas Department of Endocrinology and Diabetes, Evangelismos Hospital, Athens, Greece

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Stavroula A Paschou Division of Endocrinology and Diabetes, ‘Aghia Sophia’ Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Panagiotis Anagnostis Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece

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Giovanna Muscogiuri Division of Endocrinology, Department of Clinical Medicine and Surgery, ‘Federico II’ University of Naples, Naples, Italy

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Gerasimos Siasos First Department of Cardiology, Hippokration Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Andromachi Vryonidou Department of Endocrinology and Diabetes, Hellenic Red Cross Hospital, Athens, Greece

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intracellular shift of the potassium can also lead to severe hypokalemia. Insulin administration, stimulation of the sympathetic nervous system, thyreotoxicosis and familiar periodic paralysis are some of the reasons for this phenomenon ( 20 ). Congenital

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0109
Volume/Issue:
Volume 7: Issue 4
Open access
Felix Reschke Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Torben Biester Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Thekla von dem Berge Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Dagmar Jamiolkowski Auf Der Bult Children’s Hospital, Department of Paediatric Dermatology, Hannover, Germany

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Laura Hasse Auf Der Bult Children’s Hospital, Department of Paediatric Dermatology, Hannover, Germany

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Francesca Dassie Padua University Hospital, Clinica Medica 3, Department of Medicine (DIMED), Padova, Veneto, Italy

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Pietro Maffei Padua University Hospital, Clinica Medica 3, Department of Medicine (DIMED), Padova, Veneto, Italy

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Katharina Klee Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Olga Kordonouri Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Hagen Ott Auf Der Bult Children’s Hospital, Department of Paediatric Dermatology, Hannover, Germany

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Thomas Danne Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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. Particular rare forms of diabetes and skin lesions Congenital/neonatal diabetes Transient neonatal diabetes mellitus, or TNDM, is the most common form of neonatal diabetes mellitus. The diabetogenic metabolic state usually normalises by the 18th month

Article Type:
Review Article
Collections:
Metabolic Syndrome and Diabetes
DOI:
https://doi.org/10.1530/EC-22-0410
Volume/Issue:
Volume 12: Issue 7
Open access
Bo Zhu Department of Obstetrics and Gynecology, Assisted Reproduction Unit, Sir Run Run ShawHospital, Zhejiang University School of Medicine Key Laboratory of Reproductive Dysfunction Management of Zhejiang Province, Hangzhou, Zhejiang, China
Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Yumei Chen Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Fang Xu Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Xiaolu Shen Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Xuanyu Chen Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Jieqiang Lv Department of Gynecology and Obstetrics, the Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China

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Songying Zhang Department of Obstetrics and Gynecology, Assisted Reproduction Unit, Sir Run Run ShawHospital, Zhejiang University School of Medicine Key Laboratory of Reproductive Dysfunction Management of Zhejiang Province, Hangzhou, Zhejiang, China

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found in most of women who suffer from PCOS, which indicates androgens excess have a causative role in PCOS ( 10 ). Female patients with congenital adrenal hyperplasia that have higher endogenous adrenal androgen levels, are reported to present PCOS

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0608
Volume/Issue:
Volume 10: Issue 3
Open access
Kusum Lata Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Pinaki Dutta Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Subbiah Sridhar Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Minakshi Rohilla Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Anand Srinivasan Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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G R V Prashad Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Viral N Shah Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Anil Bhansali Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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complications were noted. After delivery, the birth weight, gestational age and APGAR score at 1 and 5 min, and the presence of any congenital malformations were noted. Maternal complications were noted as spontaneous abortion, hypertensive complications

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0012
Volume/Issue:
Volume 2: Issue 2
Open access
Fiona Broughton Pipkin Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Hiten D Mistry Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Chandrima Roy Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Bernhard Dick Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Jason Waugh Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Rebecca Chikhi Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Lesia O Kurlak Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Markus G Mohaupt Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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birth weight due to congenital infections such as cytomegalovirus, dysmorphism, twins, severe cerebral palsy, congenital heart disease, acute infections, hyaline membrane disease or other respiratory disease, jaundice, hypoglycaemia or with a history of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0084
Volume/Issue:
Volume 4: Issue 4
Open access
David J F Smith Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK

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Hemanth Prabhudev Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK

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Sirazum Choudhury Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK
Department of Clinical Biochemistry, Imperial College Healthcare NHS Trust, London, UK
Department of Investigative Medicine, Division of Diabetes, Endocrinology and Metabolism, Imperial College London, London, UK

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Karim Meeran Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK
Department of Investigative Medicine, Division of Diabetes, Endocrinology and Metabolism, Imperial College London, London, UK

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glucocorticoids concurrently. Individuals taking glucocorticoids for suppression of autoimmune disease or other systemic disease were excluded, as were people with congenital adrenal hyperplasia. After applying these criteria, we obtained data from 146 patients

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0257
Volume/Issue:
Volume 6: Issue 8
Open access
Beril Erdem Department of Biology, Faculty of Science, Hacettepe University, Ankara, Turkey

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Angela Schulz Rudolf Schönheimer Institute of Biochemistry, Faculty of Medicine, Leipzig University, Leipzig, Germany

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Emel Saglar Department of Biology, Faculty of Science, Hacettepe University, Ankara, Turkey

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Ferhat Deniz Department of Endocrinology, SBÜ Sultan Abdülhamid Han Teaching Hospital, Istanbul, Turkey

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Torsten Schöneberg Rudolf Schönheimer Institute of Biochemistry, Faculty of Medicine, Leipzig University, Leipzig, Germany

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Hatice Mergen Department of Biology, Faculty of Science, Hacettepe University, Ankara, Turkey

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.2005) 20 Sahakitrungruang T Tee MK Rattanachartnarong N Shotelersuk V Suphapeetiporn K Miller WL. Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0236
Volume/Issue:
Volume 7: Issue 1
Open access