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  • signs and symptoms x
  • Paediatric Endocrinology Collection x
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Raja Padidela Royal Manchester Children’s Hospital and Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK

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Moira S Cheung Evelina London Children’s Hospital, London, UK

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Vrinda Saraff Birmingham Women’s and Children’s Hospital, Birmingham, UK

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Poonam Dharmaraj Alder Hey Children’s NHS Foundation Trust, Liverpool, UK

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collection and reporting. Disease symptoms should be monitored through clinical examination (weight, mobility, pain) and radiography, and any unexpected effects reported. Any sign of local reactions should be reported. For example, in the UK, healthcare

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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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not yet in France ( 6 ). The early manifestations consist of milk intolerance, jaundice, failure to thrive, lethargy, hepatocellular damage, renal tubular disease and cataract. A galactose-free diet promptly reverses the neonatal symptoms but fails to

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Valentina Guarnotta Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Silvia Lucchese Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Mariagrazia Irene Mineo Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Donatella Mangione Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Renato Venezia Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Piero Luigi Almasio Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Gastroenterologia ed Epatologia, Università di Palermo, Palermo, Italy

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Carla Giordano Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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sometimes show PP ( 5 ). PCOS is characterized by a combination of signs and symptoms of androgen excess (hirsutism and/or hyperandrogenaemia) and ovarian dysfunction (oligo-ovulation) and/or polycystic ovarian morphology (PCOM) ( 6 ). The most severe

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Volha V Zhukouskaya APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy

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Anya Rothenbuhler APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France

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Annamaria Colao Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy

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Carolina Di Somma Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy
IRCCS SDN, Naples, Italy

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Peter Kamenický APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
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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Séverine Trabado Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France
APHP, Department of Molecular Genetics, Pharmacogenetics and Hormonology, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France

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Dominique Prié Université Paris V, Faculté de Médecine, Paris, France
Hôpital Necker EnfantsMalades APHP, INSERM U1151, Paris, France

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Christelle Audrain APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France

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Anna Barosi APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France

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Christèle Kyheng APHP, Department of Adolescent Medicine, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France

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Anne-Sophie Lambert APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
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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Agnès Linglart APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
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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typical radiographic changes of rickets ( 1 ). Current medical treatment consisting of oral active vitamin D (calcitriol or 1α-(OH)D 3 ) and multiple daily phosphate supplementation partially restores clinical, biochemical, and radiographic signs of

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