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Elena Valassi Endocrinology Department, Germans Trias i Pujol Hospital and Research Institute, Badalona, Barcelona, Spain
IRCCS, Istituto Auxologico Italiano, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Iacopo Chiodini IRCCS, Istituto Auxologico Italiano, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Richard A Feelders Division of Endocrinology, Erasmus Medical Centre, Rotterdam, Netherlands

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Cornelie D Andela Division of Endocrinology and Centre for Endocrine Tumours, Leiden University Medical Centre, Leiden, Netherlands

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Margueritta Abou-Hanna HRA Pharma Rare Diseases, Châtillon, France

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Sarah Idres HRA Pharma Rare Diseases, Châtillon, France

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Antoine Tabarin Department of Endocrinology and INSERM U862 University and CHU of Bordeaux, Pessac, France

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In addition, a 13-item physician questionnaire was developed to assess physicians’ perspectives on CS symptoms and comorbidities. This physician questionnaire was conducted by HRA Pharma Rare Diseases at the 2019 European Congress of Endocrinology, in

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Caroline Nguyen Université de Paris, FHU DDS-Net, Dental School, Paris, France

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Elisabeth Celestin Filière OSCAR, Paris, France

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Delphine Chambolle Association of People with Vitamin-Resistant Hypophosphatemic Rickets, Suresnes, France

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Agnès Linglart Filière OSCAR, Paris, France
Paris Saclay University, AP-HP, DMU SEA, Endocrinology and Diabetes for Children, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, INSERM-U1185, Le Kremlin Bicêtre, France

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Martin Biosse Duplan Université de Paris, FHU DDS-Net, Dental School, Paris, France
APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, Inserm U1163, Institute Imagine, Paris, France

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Catherine Chaussain Université de Paris, FHU DDS-Net, Dental School, Paris, France
APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, URP2496, Paris, France

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Lisa Friedlander Université de Paris, FHU DDS-Net, Dental School, Paris, France
Université de Paris Laboratoire ECEVE INSERM, UMR1123, Hôpital Robert Debré, Paris, France
Centre de Reference, Maladies Orales et Dentaires Rares, Hôpital Rothschild, APHP, Paris, France
Filière de Santé Maladies Rares TETECOU, Malformations Rares de la tête, du cou et des dents, Hôpital Necker, Paris, France

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Introduction In the European Union, a disease is considered rare when it affects fewer than one person in 2000 ( 1 ). Awareness of rare diseases has increased in the European Union since 2009 when the Council of the European Union asked the

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John E M Midgley
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Rolf Larisch North Lakes Clinical, Department of Nuclear Medicine, Medical Department I, Ruhr Center for Rare Diseases (CeSER), 20 Wheatley Avenue, Ilkley LS29 8PT, UK

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Johannes W Dietrich North Lakes Clinical, Department of Nuclear Medicine, Medical Department I, Ruhr Center for Rare Diseases (CeSER), 20 Wheatley Avenue, Ilkley LS29 8PT, UK
North Lakes Clinical, Department of Nuclear Medicine, Medical Department I, Ruhr Center for Rare Diseases (CeSER), 20 Wheatley Avenue, Ilkley LS29 8PT, UK

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Rudolf Hoermann North Lakes Clinical, Department of Nuclear Medicine, Medical Department I, Ruhr Center for Rare Diseases (CeSER), 20 Wheatley Avenue, Ilkley LS29 8PT, UK

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Several influences modulate biochemical responses to a weight-adjusted levothyroxine (l-T4) replacement dose. We conducted a secondary analysis of the relationship of l-T4 dose to TSH and free T3 (FT3), using a prospective observational study examining the interacting equilibria between thyroid parameters. We studied 353 patients on steady-state l-T4 replacement for autoimmune thyroiditis or after surgery for malignant or benign thyroid disease. Peripheral deiodinase activity was calculated as a measure of T4–T3 conversion efficiency. In euthyroid subjects, the median l-T4 dose was 1.3 μg/kg per day (interquartile range (IQR) 0.94,1.60). The dose was independently associated with gender, age, aetiology and deiodinase activity (all P<0.001). Comparable FT3 levels required higher l-T4 doses in the carcinoma group (n=143), even after adjusting for different TSH levels. Euthyroid athyreotic thyroid carcinoma patients (n=50) received 1.57 μg/kg per day l-T4 (IQR 1.40, 1.69), compared to 1.19 μg/kg per day (0.85,1.47) in autoimmune thyroiditis (P<0.01, n=76) and 1.08 μg/kg per day (0.82, 1.44) in patients operated on for benign disease (P< 0.01, n=80). Stratifying patients by deiodinase activity categories of <23, 23–29 and >29 nmol/s revealed an increasing FT3–FT4 dissociation; the poorest converters showed the lowest FT3 levels in spite of the highest dose and circulating FT4 (P<0.001). An l-T4-related FT3–TSH disjoint was also apparent; some patients with fully suppressed TSH failed to raise FT3 above the median level. These findings imply that thyroid hormone conversion efficiency is an important modulator of the biochemical response to l-T4; FT3 measurement may be an additional treatment target; and l-T4 dose escalation may have limited success to raise FT3 appropriately in some cases.

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Wolfgang Högler Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK

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Agnès Linglart AP-HP, Hôpital Bicêtre Paris Saclay, service d’endocrinologie et diabète de l’enfant, DMU 3 SEA, centre de référence des maladies rares du métabolisme du calcium et du phosphate, filière OSCAR; Université de Paris-Saclay INSERM U1185, Hôpital Bicêtre, Le Kremlin-Bicêtre, France

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Anna Petryk Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA

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Priya S Kishnani Duke University Medical Center, Durham, North Carolina, USA

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Lothar Seefried University of Würzburg, Würzburg, Germany

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Shona Fang Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA

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Cheryl Rockman-Greenberg University of Manitoba, Winnipeg, Manitoba, Canada

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Keiichi Ozono Osaka University, Suita, Osaka, Japan

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Kathryn Dahir Vanderbilt University Medical Center, Nashville, Tennessee, USA

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Gabriel Ángel Martos-Moreno Departments of Pediatrics and Pediatric Endocrinology Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain

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up to December 7, 2020, were included in this analysis. As previously described, all aspects of the Global HPP Registry are sponsored by Alexion, AstraZeneca Rare Disease (Boston, MA, USA), and the registry is monitored by a scientific advisory

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Antonella Giampietro Pituitary Unit, Department of Endocrinology, Fondazione A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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Sabrina Chiloiro Pituitary Unit, Department of Endocrinology, Fondazione A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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Claudio Urbani Endocrinology II Unit, Department of Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy

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Rosario Pivonello Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Università Federico II di Napoli, Naples, Italy

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Martin Ove Carlsson Global Medical Affairs, Pfizer Rare Disease, Brussels, Belgium

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Francesca Dassie Department of Medicine - DIMED, University of Padua, Padua, Italy

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Nunzia Prencipe Division of Endocrinology, Diabetology and Metabolism, Department of Medical Science, University of Turin, Turin, Italy

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Marta Ragonese Unit of Endocrinology, Department of Human Pathology, University of Messina, Messina, Italy

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Roy Gomez Global Medical Affairs, Pfizer Rare Disease, Brussels, Belgium

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Simona Granato Medical Department, Pfizer Italia, Rome, Italy

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Salvatore Cannavò Unit of Endocrinology, Department of Human Pathology, University of Messina, Messina, Italy

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Silvia Grottoli Division of Endocrinology, Diabetology and Metabolism, Department of Medical Science, University of Turin, Turin, Italy

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Pietro Maffei Department of Medicine - DIMED, University of Padua, Padua, Italy

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Annamaria Colao Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Università Federico II di Napoli, Naples, Italy

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Fausto Bogazzi Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Antonio Bianchi Pituitary Unit, Department of Endocrinology, Fondazione A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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patients who participated in the study. References 1 Chanson P & Salenave S . Acromegaly . Orphanet Journal of Rare Diseases 2008 3 17 . ( https://doi.org/10.1186/1750-1172-3-17 ) 2 Colao A Grasso LFS Giustina A Melmed S Chanson

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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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the early recognition and treatment of the endocrine disorder. By definition, rare diseases affect only a small number of people and therefore cause specific problems arising from their rarity. The European Union considers a disease as rare when it

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Nathalie Ly Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France

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Sophie Dubreuil Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France

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Philippe Touraine Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France
Sorbonne University, Paris, France

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Objective

Growth hormone (GH) and insulin-like growth factors (IGFs) are not mandatory for reproductive life, but data suggest their synergistic action with follicle-stimulating hormone throughout ovarian folliculogenesis. We aimed to evaluate the association of IGF-1 level on clinical pregnancy rate after ovarian stimulation, with or without intrauterine insemination, in women with GH deficiency (GHD) treated with GH replacement therapy (GHRT) at conception.

Design and methods

Data from 19 women with both GHD and hypogonadotropic hypogonadism referred to our reproductive medicine department were retrospectively collected. IGF-1 levels were assessed in a single laboratory, and values were expressed in s.d. from the mean.

Results

Amongst the seven patients receiving GHRT during ovarian stimulation, higher IGF-1 levels were significantly associated with clinical pregnancy (+0.4 s.d. vs–1.6 s.d., P = 0.03). Amongst the 24 pregnancies obtained by the 19 infertile patients, pregnancy loss was less frequent with the addition of GHRT than without (1 miscarriage out of 8 total pregnancies vs 4 miscarriages out of 16 total pregnancies).

Conclusions

This is the first study evaluating the association of IGF-1 level on clinical pregnancy rate in GH-treated women at conception. When taking care of female infertility due to hypogonadotropic hypogonadism, practitioners should enquire about the associated GHD and IGF-1 levels. To ensure higher clinical pregnancy chances, practitioners should aim for IGF-1 values at conception, ranging from 0 s.d. to +2 s.d., and, if necessary, could discuss initiation or increase GH treatment. Prospective studies should help strengthen our results.

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Giuseppe Lisco Interdisciplinary Department of Medicine, Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, School of Medicine, University of Bari “Aldo Moro”, Piazza Giulio Cesare, Bari, Italy

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Anna De Tullio Interdisciplinary Department of Medicine, Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, School of Medicine, University of Bari “Aldo Moro”, Piazza Giulio Cesare, Bari, Italy

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Olga Disoteo Diabetology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy

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Giuseppina Piazzolla Interdisciplinary Department of Medicine, Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, School of Medicine, University of Bari “Aldo Moro”, Piazza Giulio Cesare, Bari, Italy

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Edoardo Guastamacchia Interdisciplinary Department of Medicine, Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, School of Medicine, University of Bari “Aldo Moro”, Piazza Giulio Cesare, Bari, Italy

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Carlo Sabbà Interdisciplinary Department of Medicine, Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, School of Medicine, University of Bari “Aldo Moro”, Piazza Giulio Cesare, Bari, Italy

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Vincenzo De Geronimo Unit of Endocrinology, Policlinico Morgagni CCD, Catania, Italy

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Enrico Papini Department of Endocrinology and Metabolism, Regina Apostolorum Hospital, Rome, Italy

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Vincenzo Triggiani Interdisciplinary Department of Medicine, Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, School of Medicine, University of Bari “Aldo Moro”, Piazza Giulio Cesare, Bari, Italy

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Glucagon-like peptide 1 receptor agonists (GLP-1RAs) have changed considerably the management of type 2 diabetes (T2D). However, recently published data from retrospective cohort studies suggest that chronic exposure to GLP-1RAs in T2D may increase the risk of papillary and medullary thyroid cancer. In this perspective, the role of the incretin system in thyroid carcinogenesis has been reviewed and critically commented on, aiming to understand if the time has arrived to be concerned about the risk. Although evidence suggested, speculative hypotheses should be verified, and further studies are urgently needed to clarify the issue.

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Violeta Iotova Endo-ERN Work Package ‘Education & Training’ Paediatric Chair, Department of Pediatrics, Medical University of Varna, Varna, Bulgaria

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Camilla Schalin-Jäntti Endo-ERN Work Package ‘Education & Training’ Adult Chair, Endocrinology, Abdominal Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Petra Bruegmann Endo-ERN Work Package ‘Education & Training’ European Patient Advocacy Group (ePAG) representative co-chair, Endo-ERN, Leiden, The Netherlands

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Manuela Broesamle Endo-ERN Work Package ‘Education & Training’ European Patient Advocacy Group (ePAG) representative co-chair, Endo-ERN, Leiden, The Netherlands

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Natasa Bratina Department of Endocrinology, Diabetes and Metabolic Disorders, University Medical Center, University Childrens Hospital, Ljubljana, Slovenia

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Vallo Tillmann Children’s Clinic, Tartu University Hospital, Tartu, Estonia

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Olaf Hiort Endo-ERN, Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany

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Alberto M Pereira Endo-ERN, Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands

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the past need decent care throughout their lifespan ( 2 ). The European Reference Networks for rare diseases were established and began operating in March 2017, covering large geographical parts of Europe and, by definition, collecting best expert

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Mette H Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

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Turner syndrome (TS) is a condition with a missing X chromosome (45,X) or parts thereof or with a mosaic setup (45,X/46,XX or other variants). It is a rare disease. New international guidelines describe an appropriate setup for optimal clinical

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