Carina Ankarberg-Lindgren
Carina Ankarberg-Lindgren
Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
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Aneta Gawlik
Aneta Gawlik
Department of Pediatrics and Pediatric Endocrinology, Medical University of Silesia, School of Medicine, Katowice, Poland
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Berit Kriström
Berit Kriström
Department of Clinical Sciences/Pediatrics, Umeå University, Umeå, Sweden
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Laura Mazzanti
Laura Mazzanti
Pediatric Endocrinology and Rare Disease Unit, Department of Medical and Surgical Science, University of Bologna, Bologna, Italy
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Elisabeth J Ruijgrok
Elisabeth J Ruijgrok
Department of Pharmacy, Erasmus Medical Center – Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands
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Theo C J Sas
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
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Diabeter, National Diabetes Care and Research Center, Rotterdam, the Netherlands
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Objective
Transdermal estradiol patches are primarily designed for adult women. No low-dose patches are licensed for pubertal induction in hypogonadal girls. Low doses can be achieved by cutting a matrix patch into smaller pieces. However, the manufacturers do not guarantee stability or utility of cut estradiol patches. The aim of the study was to assess 1-month stability of cut estradiol patches from four different manufacturers in the laboratory at room temperature (+21°C) and at an elevated temperature (+35°C).
Design and methods
Estraderm MX 50 µg, Systen 50 µg and Oesclim 25 µg matrix patches were cut into eight pieces while Estradot 50 µg small patches were cut in half. The cut patches were stored in their respective pouches at +21°C or at +35°C for up to 1 month. The estradiol drug was extracted from the patch by ethyl acetate n-hexane and determined by radioimmunoassay.
Results
Storage at +21°C or +35°C up to 1 month did not reduce the estradiol concentration in Estraderm MX, Systen and Oesclim patches. However, although the estradiol in Estradot patches was not affected by storage at +21°C, at +35°C, estradiol decreased by 57% (±1%) in cut pieces.
Conclusions
Unused Estraderm MX, Systen and Oesclim patch pieces may be stored for at least 1 month at ≤+35°C. Where estradiol patches for children are not available, cut pieces of these or similar patches can be used for pubertal induction. The Estradot patch was too small to properly cut into low doses and not stable in elevated temperatures.
Lanping Jiang
Lanping Jiang
Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Department of Nephrology & Key Laboratory of Nephrology, National Health Commission and Guangdong Province, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
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Department of Nephrology & Key Laboratory of Nephrology, National Health Commission and Guangdong Province, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
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Xiaoyan Peng
Xiaoyan Peng
Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Renal Division, Children’s Hospital Affiliated to Capital Institute of Pediatrics, Beijing, China
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Renal Division, Children’s Hospital Affiliated to Capital Institute of Pediatrics, Beijing, China
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Bingbin Zhao
Bingbin Zhao
Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
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Lei Zhang
Lei Zhang
Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
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Lubin Xu
Lubin Xu
Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
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Xuemei Li
Xuemei Li
Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
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Min Nie
Min Nie
Department of Endocrinology & Key Laboratory of Endocrinology, National Health and Family Planning Commission, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
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Limeng Chen
Limeng Chen
Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
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Purposes
This study was conducted to identify the frequent mutations from reported Chinese Gitelman syndrome (GS) patients, to predict the three-dimensional structure change of human Na–Cl co-transporter (hNCC), and to test the activity of these mutations and some novel mutations in vitro and in vivo.
Methods
SLC12A3 gene mutations in Chinese GS patients previously reported in the PubMed, China National Knowledge Infrastructure, and Wanfang database were summarized. Predicted configurations of wild type (WT) and mutant proteins were achieved using the I-TASSER workplace. Six missense mutations (T60M, L215F, D486N, N534K, Q617R, and R928C) were generated by site-directed mutagenesis. 22Na+ uptake experiment was carried out in the Xenopus laevisoocyte expression system. In the study, 35 GS patients and 20 healthy volunteers underwent the thiazide test.
Results
T60M, T163M, D486N, R913Q, R928C, and R959frameshift were frequent SLC12A3 gene mutations (mutated frequency >3%) in 310 Chinese GS families. The protein’s three-dimensional structure was predicted to be altered in all mutations. Compared with WT hNCC, the thiazide-sensitive 22Na+ uptake was significantly diminished for all six mutations: T60M 22 ± 9.2%, R928C 29 ± 12%, L215F 38 ± 14%, N534K 41 ± 15.5%, Q617R 63 ± 22.1%, and D486N 77 ± 20.4%. In thiazide test, the net increase in chloride fractional excretion in 20 healthy controls was significantly higher than GS patients with or without T60M or D486N mutations.
Conclusions
Frequent mutations (T60M, D486N, and R928C) and novel mutations (L215F, N534K, and Q617R) lead to protein structure alternation and protein dysfunction verified by 22Na+ uptake experiment in vitro and thiazide test on the patients.
Isabelle Flechtner
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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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
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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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
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
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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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
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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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
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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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Philippe Touraine
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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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Philippe Labrune
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
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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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
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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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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on the patients’ puberty onset, fertility and biological markers. Predictive factors are therefore difficult to define. The primary objective of this collaborative questionnaire survey by French Reference Centers for Rare Diseases was to collect
M I Stamou
M I Stamou
Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
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Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
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P Varnavas
P Varnavas
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
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L Plummer
L Plummer
Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA
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V Koika
V Koika
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
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N A Georgopoulos
N A Georgopoulos
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
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Introduction Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a rare disease with a wide spectrum of reproductive and non-reproductive clinical characteristics. Apart from the phenotypic heterogeneity, IGD is also a
Athanasios D Anastasilakis
Athanasios D Anastasilakis
Department of Endocrinology, 424 General Military Hospital, Thessaloniki, Greece
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Marina Tsoli
Marina Tsoli
1st Propaedeutic Department of Internal Medicine, National and Kapodistrian University of Athens, Athens, Greece
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Gregory Kaltsas
Gregory Kaltsas
1st Propaedeutic Department of Internal Medicine, National and Kapodistrian University of Athens, Athens, Greece
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Polyzois Makras
Polyzois Makras
Department of Endocrinology and Diabetes, 251 Hellenic Air Force & VA General Hospital, Athens, Greece
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during the 6 months that followed the last denosumab injection. A phase II trial is currently on-going aiming to verify these findings in a larger number of LCH patients (Nbib3270020). Conclusion In conclusion, LCH is a rare disease with
Caroline Culen
Caroline Culen
University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
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Diana-Alexandra Ertl
Diana-Alexandra Ertl
University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
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Katharina Schubert
Katharina Schubert
University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
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Lisa Bartha-Doering
Lisa Bartha-Doering
University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
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Gabriele Haeusler
Gabriele Haeusler
University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
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Introduction Turner syndrome (TS) is caused by structural anomalies in or complete loss of the X-chromosome (45X). Although a rare disease with an incidence of 1 in 2500 female births, it is nevertheless the most common sex chromosome
Anne Bachelot
Anne Bachelot
Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France
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UPMC Univ, Paris, France
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Magaly Vialon
Magaly Vialon
Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Amandine Baptiste
Amandine Baptiste
AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France
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Isabelle Tejedor
Isabelle Tejedor
Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Caroline Elie
Caroline Elie
AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France
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Michel Polak
Michel Polak
Department of Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et Centre des pathologies gynécologiques Rares, Hôpital Universitaire Necker Enfants malades, Paris, France
Université Paris Descartes, Paris, France
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Université Paris Descartes, Paris, France
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Philippe Touraine
Philippe Touraine
Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France
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UPMC Univ, Paris, France
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the CRMERC study group
the CRMERC study group
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departments belonging to the French reference center for endocrine rare disease (CRMERC), including 3 academic department of pediatric endocrinology located in Paris: Necker Hospital, Trousseau Hospital and Robert Debré Hospital. Patients were also recruited
Natacha Driessens
Natacha Driessens
Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium
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Madhu Prasai
Madhu Prasai
Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium
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Orsalia Alexopoulou
Orsalia Alexopoulou
Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium
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Christophe De Block
Christophe De Block
Department of Endocrinology-Diabetology-Metabolism, Universitair Ziekenhuis Antwerpen & University of Antwerp, Drie Eikenstraat, Edegem, Belgium
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Eva Van Caenegem
Eva Van Caenegem
Department of Endocrinology, Academisch Ziekenhuis Sint-Jan Brugge – Oostende AV, Ruddershove, Brugge, Belgium
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Guy T’Sjoen
Guy T’Sjoen
Department of Endocrinology, Ghent Universitary Hospital, C. Heymanslaan, Gent, Belgium
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Frank Nobels
Frank Nobels
Department of Endocrinology, Onze-Lieve Vrouw Ziekenhuis, Moorselbaan, Aalst, Belgium
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Christophe Ghys
Christophe Ghys
Department of Endocrinology, Universitair Ziekenhuis Brussel, Laarbeeklaan, Brussels, Belgium
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Laurent Vroonen
Laurent Vroonen
Department of Endocrinology, Cliniques Universitaires de Liège, Avenue de l’hôpital, Liège, Belgium
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Corinne Jonas
Corinne Jonas
Department of Endocrinology, CHU UCL Namur - Godinne, Avenue Docteur Gaston Thérasse, Yvoir, Belgium
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Bernard Corvilain
Bernard Corvilain
Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium
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Dominique Maiter
Dominique Maiter
Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium
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Introduction Primary adrenal insufficiency (PAI) is a rare disease, most commonly of auto-immune origin. There is a global variation in prevalence from 80 to 145 per million in Europe, with the highest case numbers reported in Scandinavian
Hanna F Nowotny
Hanna F Nowotny
Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany
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Jillian Bryce
Jillian Bryce
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Salma R Ali
Salma R Ali
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Roberta Giordano
Roberta Giordano
Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
Division of Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy
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Division of Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy
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Federico Baronio
Federico Baronio
Pediatric Unit, Department Hospital of Woman and Child, Endo-ERN Centre IT11, IRCSS AOU S.Orsola-Malpighi University Hospital, Bologna, Italy
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Irina Chifu
Irina Chifu
Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital of Wuerzburg, University of Wuerzburg, Wuerzburg, Germany
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Lea Tschaidse
Lea Tschaidse
Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany
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Martine Cools
Martine Cools
Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium
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Erica LT van den Akker
Erica LT van den Akker
Department of Pediatrics, Division of Pediatric Endocrinology, Erasmus MC - Sophia Children’s Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands
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Henrik Falhammar
Henrik Falhammar
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden
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Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden
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Natasha M Appelman-Dijkstra
Natasha M Appelman-Dijkstra
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
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Luca Persani
Luca Persani
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan Italy
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Guglielmo Beccuti
Guglielmo Beccuti
Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
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Ian L Ross
Ian L Ross
Division of Endocrinology, Department of Medicine, University of Cape Town, Cape Town, South Africa
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Simona Grozinsky-Glasberg
Simona Grozinsky-Glasberg
Neuroendocrine Tumor Unit, ENETS Center of Excellence, Department of Endocrinology and Metabolism, Hadassah Medical Organisation and Faculty of Medicine, the Hebrew University, Jerusalem, Israel
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Alberto M Pereira
Alberto M Pereira
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
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Eystein S Husebye
Eystein S Husebye
Department of Clinical Science and KG Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Department of Medicine, Karolinska Institutet, Stockholm, Sweden
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Department of Medicine, Haukeland University Hospital, Bergen, Norway
Department of Medicine, Karolinska Institutet, Stockholm, Sweden
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Stefanie Hahner
Stefanie Hahner
Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital of Wuerzburg, University of Wuerzburg, Wuerzburg, Germany
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S Faisal Ahmed
S Faisal Ahmed
Office for Rare Conditions, University of Glasgow, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom
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Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom
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Nicole Reisch
Nicole Reisch
Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany
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with the ESE Rare Disease Committee in April 2020, this platform was extended for reporting COVID-19 infection in a patient with an existing rare endocrine or bone condition. Upon reporting a case, a unique ID was generated instantaneously for each case
Hélène Singeisen
Hélène Singeisen
Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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Mariko Melanie Renzulli
Mariko Melanie Renzulli
Institute of Radiology, Cantonal Hospital Thurgau, Frauenfeld, Switzerland
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Vojtech Pavlicek
Vojtech Pavlicek
Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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Pascal Probst
Pascal Probst
Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland
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Fabian Hauswirth
Fabian Hauswirth
Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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Markus K Muller
Markus K Muller
Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland
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Magdalene Adamczyk
Magdalene Adamczyk
Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland
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Achim Weber
Achim Weber
Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland
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Reto Martin Kaderli
Reto Martin Kaderli
Department of Visceral Surgery and Medicine, Bern University Hospital, University of Bern, Bern, Switzerland
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Pietro Renzulli
Pietro Renzulli
Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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the underlying genetic variants. Conclusions MEN4, first described in 2006, is a very rare disease with only a few dozen cases reported in the literature. The underlying genetic alternations and the phenotypic manifestations are still poorly
