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Dan Liang Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Han Chen Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Li-Yong Zhong Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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/mL). Impairment to growth hormone–insulin-like growth factor-1 (GH/IGF1): children with growth retardation or adults with obvious hypometabolic syndrome had IGF1 levels below 2 s.d. than their peers and had additional pituitary hormone deficiencies. Impairment

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Marilena Nakaguma Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Fernanda A Correa Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Lucas S Santana Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Anna F F Benedetti Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Ricardo V Perez Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo, Instituto de Assistência Médica ao Servidor Público Estadual (HSPE-IAMSPE), São Paulo, Brasil

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Martha K P Huayllas Hospital de Transplantes Euryclides de Jesus Zerbini, São Paulo, Brasil

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Mirta B Miras Hospital de Niños Santísima Trinidad, Cordoba, Argentina

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Mariana F A Funari Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Antonio M Lerario Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Berenice B Mendonca Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Luciani R S Carvalho Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Alexander A L Jorge Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Introduction Congenital hypopituitarism (CH) is a rare disorder (incidence of 1:3500–10,000 births) defined by the deficiency of one or more pituitary hormones ( 1 , 2 ). Clinical presentation varies, ranging from isolated growth hormone

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Natércia Neves Marques de Queiroz University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Franciane Trindade Cunha de Melo University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Fabrício de Souza Resende University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Luísa Corrêa Janaú University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Norberto Jorge Kzan de Souza Neto University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Manuela Nascimento de Lemos University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Ana Carolina Lobato Virgolino University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Maria Clara Neres Iunes de Oliveira University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Angélica Leite de Alcântara University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Lorena Vilhena de Moraes University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Tiago Franco David University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Wanderson Maia da Silva University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Scarlatt Souza Reis University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Márcia Costa dos Santos University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Ana Carolina Contente Braga de Souza University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Pedro Paulo Freire Piani University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Neyla Arroyo Lara Mourão University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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Karem Mileo Felício University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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João Felício Abrahão Neto University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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João Soares Felício University Hospital João de Barros Barreto, Federal University of Pará, Endocrinology Division, Belem, Pará, Brazil

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health problem, as one billion people presented 25(OH)D deficiency ( 4 ), with a prevalence ranging from 2 to 90%, depending on cut-off points and selected population ( 5 ). In addition, Manson et al. ( 6 ), in 2016, in a re-analysis of IOM data

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Robert Rapaport Division of Pediatric Endocrinology & Diabetes, Mount Sinai Kravis Children’s Hospital and Icahn School of Medicine at Mount Sinai, New York, New York, USA

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Jan M Wit Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands

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Martin O Savage Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, London, UK

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. 25 Gertner JM Genel M Gianfredi SP Hintz RL Rosenfeld RG Tamborlane WV Wilson DM Prospective clinical trial of human growth hormone in short children without growth hormone deficiency . Journal of Pediatrics 1984 104 172 – 176

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S E Baldeweg Department of Diabetes and Endocrinology, University College London NHS Foundation Trust and Univeristy College London, London, UK

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S Ball Department of Medicine and Endocrinology, Manchester University Foundation Trust & Manchester Academic Health Science Centre Manchester, Manchester, UK

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A Brooke Royal Devon and Exeter NHS Foundation Trust, Exeter, UK

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H K Gleeson Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK

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M J Levy University of Leicester and University of Leicester Hospitals Trust, Leicester, UK

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M Prentice Croydon Health Services NHS Trust, Croydon, UK

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J Wass Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology & Metabolism, Oxford, UK

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the Society for Endocrinology Clinical Committee The Society for Endocrinology, Starling House, 1600 Bristol Parkway North, Bristol, UK

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Introduction Cranial diabetes insipidus (CDI) is due to the relative or absolute lack of the posterior pituitary hormone vasopressin (AVP), also known as anti-diuretic hormone (ADH). AVP is the major determinant of renal water resorption. AVP

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Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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isoenzyme 3b-HSD2 is an essential step for the biosynthesis of all steroids. Therefore, it plays a crucial role in aldosterone, cortisol and sex hormones production ( Fig. 1 ). Phenotypes encompass a continuum from mild-to-severe enzymatic deficiency. In the

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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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defined as an insufficient GH peak during insulin tolerance test (ITT) (severe GHD if GH peak < 10 mU/L; partial GHD if GH peak between 10 and 20 mU/L). According to 2007 consensus guidelines, patients with three or more pituitary hormone deficiencies and

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J Brossaud Université de Bordeaux, Nutrition et Neurobiologie Intégrée, Bordeaux, France
Department of Nuclear Medicine, CHU de Bordeaux, Pessac, France
INRA, Nutrition et Neurobiologie Intégrée, UMR1286, Bordeaux, France

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V Pallet Université de Bordeaux, Nutrition et Neurobiologie Intégrée, Bordeaux, France
INRA, Nutrition et Neurobiologie Intégrée, UMR1286, Bordeaux, France

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J-B Corcuff Université de Bordeaux, Nutrition et Neurobiologie Intégrée, Bordeaux, France
Department of Nuclear Medicine, CHU de Bordeaux, Pessac, France
INRA, Nutrition et Neurobiologie Intégrée, UMR1286, Bordeaux, France

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differentiation, and for the maintenance of some very specific cell functions such as photo-transduction. Vitamin A deficiency is a marker of malnutrition that correlates with infection and mortality in children and possibly in childbearing women. Vitamin A is

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Guillem Cuatrecasas Endocrinology Department, Hospital Quiron-Teknon, CPEN S.L., Barcelona, Spain
Universitat Oberta Catalunya (UOC), Barcelona, Spain

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Hatice Kumru Institut Guttmann, Institut Universitari de Neurorehabilitació Adscrit a la UAB, Barcelona, Spain
Univ Autònoma de Barcelona, Cerdanyola del Vallès, Spain
Fundació Institut d’Investigació en Ciències de la Salut Germans Trias i Pujol, Barcelona, Spain

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M Josep Coves Endocrinology Department, Hospital Quiron-Teknon, CPEN S.L., Barcelona, Spain

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Joan Vidal Institut Guttmann, Institut Universitari de Neurorehabilitació Adscrit a la UAB, Barcelona, Spain
Univ Autònoma de Barcelona, Cerdanyola del Vallès, Spain
Fundació Institut d’Investigació en Ciències de la Salut Germans Trias i Pujol, Barcelona, Spain

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Introduction Growth hormone deficiency (GHD) has been studied in neurological disorders affecting central nervous systems, such as multiple sclerosis to amyotrophic lateral sclerosis ( 1 , 2 ). Because of the direct impact to the pituitary

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Nathalia G B P Ferreira Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Joao L O Madeira Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Peter Gergics Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Renata Kertsz Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Juliana M Marques Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Nicholas S S Trigueiro Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Anna Flavia Figueredo Benedetti University of Michigan Medical School, Department of Human Genetics, Ann Arbor, Michigan, United States

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Bruna V Azevedo Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Bianca H V Fernandes Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil

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Debora D Bissegatto Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Isabela P Biscotto Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Qing Fang Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Qianyi Ma Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Asye B Ozel Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Jun Li Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Sally A Camper Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil

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Alexander A L Jorge Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil

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Berenice B Mendonça Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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Luciani R Carvalho Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

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cell proliferation and differentiation ( 1 ). Defects in the genes that control these processes can cause congenital hypopituitarism, which is defined as the deficiency of one or more pituitary hormones. Congenital growth hormone deficiency (GHD

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