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Parelsnoer Institute, Utrecht, The Netherlands
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Introduction Rare diseases that affect less than one in 2000 people, pose challenges in supporting patients and physicians with evidence-based guidelines of sufficient quality ( 1 ). Medical decision making becomes challenging when guidelines
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Department of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands
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Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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, registries have the potential to facilitate surveillance, audit and research. Generally, rare disease registries tend to focus more on the collection of detailed natural history data than support epidemiological research. On the other hand, linked datasets
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Faculty of Nursing Science, Laval University, Québec City, Canada
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Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
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hypogonadotropic cause of infertility (TS) to those with a hypogonadotropic etiology (CHH). Notably, conducting research in rare disease patients is challenged by the fact that these patients are dispersed and difficult to reach. Therefore, the purpose of this
Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands
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Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands
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Department of Paediatrics, UMHAT ‘Sveta Marina’ Varna, Medical University of Varna, Varna, Bulgaria
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pandemic might have influenced the CPMS usage. On the one hand, clinicians were facing more work in hospitals with outpatients and COVID-19 patients and understandably did not have sufficient time to spend on individual patient cases with rare diseases
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Unidad 747), ISCIII, Spain
Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Department of Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
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journeys’ (PJ) are instruments developed to collect information on patients’ experiences in many areas of medicine, including rare diseases ( 8 ). They are simple ways to make visible the needs of a community of patients that can complete the view of the
Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy
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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
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IRCCS SDN, Naples, Italy
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APHP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France
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APHP, Department of Molecular Genetics, Pharmacogenetics and Hormonology, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
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Hôpital Necker EnfantsMalades APHP, INSERM U1151, Paris, France
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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
APHP, Department of Adolescent Medicine, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France
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Introduction X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked ( PHEX ) gene and characterized by chronic hypophosphatemia. Impaired function of PHEX
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Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands
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Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands
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Department of Paediatric Endocrinology, Leiden University Medical Centre, Leiden, the Netherlands
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Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
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:400,000 (incidence in 0–20 year olds) (55) 1 Silver–Russell syndrome 1:30,000–100,000 (prevalence) (56) 1 a Retrieved from www.orpha.net (portal for rare diseases and orphan drugs); b retrieved from medical records. Table 2
AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Unité d’Épidémiologie Clinique, Inserm, Paris, France
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18 (4) Non congenital hypopituitarism 17 (3) Craniopharyngioma 16 (3) Familial dyslipidemia 8 (2) Other conditions (rare diseases, pituitary benign tumour, patients at risk following disease or treatment) 70 (14
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
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Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France
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-Gauillard H Cartes A Bouligand J Young J . Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life . Orphanet Journal of Rare Diseases 2015 10 71. ( https://doi.org/10.1186/s13023-015-0287-9 ) 8 Kohva E Huopio H Hietamäki J
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Université Pierre et Marie Curie, Sorbonne Université, Paris, France
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INSERM UMR_S933, Paris, France
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Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France
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Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available concerning adult testicular function in such patients. We had the opportunity to study gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. He presented at birth a neonatal salt-wasting syndrome. He had a micropenis, a perineal hypospadias and two intrascrotal testes. HSD3B2 gene sequencing revealed a 687del27 homozygous mutation. The patient achieved normal puberty at the age of 15 years. Transition from the paediatric department occurred at the age of 19 years. His hormonal profile under hydrocortisone and fludrocortisone treatments revealed normal serum levels of 17OH-pregnenolone, as well as SDHEA, ACTH, total testosterone, inhibin B and AMH. Pelvic ultrasound identified two scrotal testes of 21 mL each, without any testicular adrenal rest tumours. His adult spermatic characteristics were normal, according to WHO 2010 criteria, with a sperm concentration of 57.6 million/mL (N > 15), 21% of typical forms (N > 4%). Sperm vitality was subnormal (41%; N > 58%). This patient, in contrast to previous reports, presents subnormal sperm parameters and therefore potential male fertility in a 24-years-old patient with severe 3b-HSD deficiency. This case should improve counselling about fertility of male patients carrying HSD3B2 mutation.