Salma R Ali
Salma R Ali
S Ali, Department of Child Health, University of Glasgow, Glasgow, G51 4TF, United Kingdom of Great Britain and Northern Ireland
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Melissa Gardner
Melissa Gardner
M Gardner, Paediatrics, University of Michigan Medical School, Department of Pediatrics Ann Arbor, US 48109-0624, Michigan, United States
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Yiqiao Xin
Yiqiao Xin
Y Xin, University of Glasgow, Glasgow, United Kingdom of Great Britain and Northern Ireland
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Stuart O’Toole
Stuart O’Toole
S O’Toole, Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, United Kingdom of Great Britain and Northern Ireland
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Martyn Flett
Martyn Flett
M Flett, Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, United Kingdom of Great Britain and Northern Ireland
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Boma Lee
Boma Lee
B Lee, Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, United Kingdom of Great Britain and Northern Ireland
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Mairi Steven
Mairi Steven
M Steven, Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, United Kingdom of Great Britain and Northern Ireland
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David E. Sandberg
David E. Sandberg
D Sandberg, Pediatrics, Univ Michigan, Ann Arbor, United States
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S. Faisal Ahmed
S. Faisal Ahmed
S Ahmed, University of Glasgow, Glasgow, United Kingdom of Great Britain and Northern Ireland
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Background: There is a paucity of information on health-related quality of life (HRQoL) outcomes in parents and children with conditions affecting sex development. The objective of this study was to develop short forms of HRQoL questionnaires which consist of a 63-item and 25-item parent self-report (PSR) and parent proxy-report (PPR), respectively, optimising use in routine clinic settings.
Methods: Short questionnaires were developed following exploratory factor analysis using raw data from 132 parents. Long and short PSRs were completed by 24 parents of children with conditions affecting sex development with median age of 3.6 years (range 0.1, 6.6); 21 (88%) were boys and 11 (46%) had proximal hypospadias. A subset of 19 parents completed long and short PPRs.
Results: Item selection based on factor loadings of >0.8 and expert consultation, produced short PSR and PPRs containing 16 and 7 items, respectively. There was no statistically significant difference in 11 out of 12 (92%) scales on the PSR and 4 out of 5 (80%) scales on the PPR when comparing short and long questionnaire scores. Short and long questionnaires took <1 minute and 5 minutes for completion, respectively. Eighteen parents (75%) reported that the time taken to complete short questionnaires was acceptable; 10 (42%) preferred short questionnaires. Ten (42%) versus 6 (25%) stated a preference for completing short versus long questionnaires.
Conclusion: Short versions were largely representative of the long questionnaires and are acceptable to evaluate psychosocial distress in young children and their caregivers. Further psychometric validation of short forms is warranted.
Andrew R Dismukes
Andrew R Dismukes
Department of Human Development and Family Studies, Iowa State University, Ames, Iowa, USA
Tulane University School of Medicine, Department of Psychiatry, Division of Child and Adolescent Psychiatry, Tulane University, New Orleans, Louisiana, USA
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Tulane University School of Medicine, Department of Psychiatry, Division of Child and Adolescent Psychiatry, Tulane University, New Orleans, Louisiana, USA
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Vanessa J Meyer
Vanessa J Meyer
Department of Human Development and Family Studies, Iowa State University, Ames, Iowa, USA
Tulane University School of Medicine, Department of Psychiatry, Division of Child and Adolescent Psychiatry, Tulane University, New Orleans, Louisiana, USA
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Tulane University School of Medicine, Department of Psychiatry, Division of Child and Adolescent Psychiatry, Tulane University, New Orleans, Louisiana, USA
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Elizabeth A Shirtcliff
Elizabeth A Shirtcliff
Department of Human Development and Family Studies, Iowa State University, Ames, Iowa, USA
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Katherine P Theall
Katherine P Theall
Tulane University School of Medicine, Department of Psychiatry, Division of Child and Adolescent Psychiatry, Tulane University, New Orleans, Louisiana, USA
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Kyle C Esteves
Kyle C Esteves
Tulane University School of Medicine, Department of Psychiatry, Division of Child and Adolescent Psychiatry, Tulane University, New Orleans, Louisiana, USA
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Stacy S Drury
Stacy S Drury
Tulane University School of Medicine, Department of Psychiatry, Division of Child and Adolescent Psychiatry, Tulane University, New Orleans, Louisiana, USA
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aging spectrum, DHEA is positively associated with pubertal development. A steady increase in DHEA production is observed with adrenarche, the maturation of the adrenal gland ( 1 ) and the hallmark of pubertal initiation. The adrenal glands continue to
Taísa A R Vicente
Taísa A R Vicente
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Ívina E S Rocha
Ívina E S Rocha
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Roberto Salvatori
Roberto Salvatori
Division of Endocrinology, Division of Endocrinology, National Research Council, Federal University of Sergipe, Aracaju, Sergipe 49060-100, Brazil
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Carla R P Oliveira
Carla R P Oliveira
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Rossana M C Pereira
Rossana M C Pereira
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Anita H O Souza
Anita H O Souza
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Viviane C Campos
Viviane C Campos
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Elenilde G Santos
Elenilde G Santos
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Rachel D C Araújo Diniz
Rachel D C Araújo Diniz
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Eugênia H O Valença
Eugênia H O Valença
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Carlos C Epitácio-Pereira
Carlos C Epitácio-Pereira
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Mario C P Oliveira
Mario C P Oliveira
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Andrea Mari
Andrea Mari
Division of Endocrinology, Division of Endocrinology, National Research Council, Federal University of Sergipe, Aracaju, Sergipe 49060-100, Brazil
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Manuel H Aguiar-Oliveira
Manuel H Aguiar-Oliveira
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action of GH occurs mainly in the liver, and the hypoglycemic action of IGF1 occurs mainly in muscle (2) . At least in animal models, IGF1 also has an important role in the development of β-cell mass (3, 4, 5) . Genetic forms of GH resistance or GH
Avinaash Maharaj
Avinaash Maharaj
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Ruth Kwong
Ruth Kwong
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Jack Williams
Jack Williams
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Christopher Smith
Christopher Smith
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Helen Storr
Helen Storr
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Ruth Krone
Ruth Krone
Birmingham Children’s Hospital, Birmingham, UK
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Debora Braslavsky
Debora Braslavsky
Centro de Investigaciones Endocrinológicas ‘Dr. Cesar Bergadá’ (CEDIE) – CONICET – FEI – División de Endocrinología, Hospital de Niños ‘Ricardo Gutiérrez’, Buenos Aires, Argentina
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Maria Clemente
Maria Clemente
Paediatric Endocrinology, Growth and Development Research Unit, Vall d’Hebron Research Institute (VHIR), Hospital Vall d’Hebron, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain
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Nanik Ram
Nanik Ram
Department of Endocrinology, The Aga Khan University Hospital, Karachi, Pakistan
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Indraneel Banerjee
Indraneel Banerjee
Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK
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Semra Çetinkaya
Semra Çetinkaya
Health Sciences University, Dr. Sami Ulus Obstetrics and Gynaecology, Children’s Health and Disease Education and Research Hospital, Ankara, Turkey
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Federica Buonocore
Federica Buonocore
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
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Tülay Güran
Tülay Güran
Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey
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John C Achermann
John C Achermann
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
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Louise Metherell
Louise Metherell
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Rathi Prasad
Rathi Prasad
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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testicular androgen production/action from the second trimester onwards result in disorders of sex development for boys. A similar phenomenon akin to that seen in 46,XX individuals with STAR variants may occur, where enzyme deficiency is either compensated
S C Clement
S C Clement
Department of Pediatrics, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
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Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
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W E Visser
W E Visser
Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
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C A Lebbink
C A Lebbink
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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D Albano
D Albano
Department of Nuclear Medicine, University of Brescia and Spedali Civili of Brescia, Brescia, Italy
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H L Claahsen-van der Grinten
H L Claahsen-van der Grinten
Department of Pediatrics, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands
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A Czarniecka
A Czarniecka
The Oncologic and Reconstructive Surgery Clinic, M. Sklodowska-Curie National Research Institute of Oncology Gliwice Branch, Gliwice, Poland
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R P Dias
R P Dias
Department of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham Women’s, and Children’s NHS Foundation Trust, Birmingham, UK
Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
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Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
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M P Dierselhuis
M P Dierselhuis
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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I Dzivite-Krisane
I Dzivite-Krisane
Department of Pediatric Endocrinology, Children's Clinical University Hospital, Riga, Latvia
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R Elisei
R Elisei
Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
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A Garcia-Burillo
A Garcia-Burillo
Nuclear Medicine Department, Vall d'Hebron University Hospital, Barcelona, Spain
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L Izatt
L Izatt
Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK
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C Kanaka-Gantenbein
C Kanaka-Gantenbein
Division of Endocrinology, Diabetes, and Metabolism, First Department of Pediatrics National and Kapodistrian University of Athens Medical School, Aghia Sophia Children's Hospital, Athens, Greece
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H Krude
H Krude
Institute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin, Berlin, Germany
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L Lamartina
L Lamartina
Department of Endocrine Oncology, Gustave Roussy, Villejuif, France
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K Lorenz
K Lorenz
Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany
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M Luster
M Luster
Department of Nuclear Medicine, University Hospital Marburg, Marburg, Germany
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R Navardauskaitė
R Navardauskaitė
Department of Endocrinology, Lithuanian University of Health Sciences, Kaunas, Lithuania
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M Negre Busó
M Negre Busó
Nuclear Medicine Service - Institut de diagnòstic per la Imatge, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain
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K Newbold
K Newbold
Thyroid Therapy Unit, The Royal Marsden NHS Foundation Trust Hospital, London, UK
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R P Peeters
R P Peeters
Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
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G Pellegriti
G Pellegriti
Endocrinology, Endocrinology Division, Garibaldi-Nesima Medical Center, Catania, Italy
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A Piccardo
A Piccardo
Department of Nuclear Medicine, EO Ospedali Galliera, Genoa, Italy
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A L Priego
A L Priego
Department of Medicine, Division of Endocrinology, Leiden, University medical Center, Leiden, The Netherlands
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A Redlich
A Redlich
Pediatric Oncology Department, Otto von Guericke University Children's Hospital, Magdeburg, Germany
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L de Sanctis
L de Sanctis
Regina Margherita Children Hospital - Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy
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M Sobrinho-Simões
M Sobrinho-Simões
University Hospital of São João, Medical Faculty and Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal
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A S P van Trotsenburg
A S P van Trotsenburg
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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F A Verburg
F A Verburg
Department of Radiology & Nuclear Medicine, Erasmus MC Rotterdam, Rotterdam, The Netherlands
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M Vriens
M Vriens
Department of Endocrine Surgery, University Medical Center Utrecht, Utrecht, The Netherlands
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T P Links
T P Links
Department of Endocrinology, University Medical Center Groningen, Groningen, The Netherlands
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S F Ahmed
S F Ahmed
Endocrinology, Endocrinology Division, Garibaldi-Nesima Medical Center, Catania, Italy
Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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H M van Santen
H M van Santen
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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studies. The development of a patient registry is a complex process which can globally be divided into three major stages: i) preparatory phase, ii) implementation, and iii) output. The ped-DTC registry is in progress, and we are currently in the
P G Murray
P G Murray
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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D Hanson
D Hanson
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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T Coulson
T Coulson
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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A Stevens
A Stevens
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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A Whatmore
A Whatmore
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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R L Poole
R L Poole
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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D J Mackay
D J Mackay
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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G C M Black
G C M Black
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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P E Clayton
P E Clayton
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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) . Glypican 6 ( GPC6 ), in the top 10 downregulated probesets, is a heparan sulphate proteoglycan, which is linked to the extracellular surface of the cell membrane. Glypicans are expressed during development and are thought to control availability of local
Constantine A Stratakis
Constantine A Stratakis
Human Genetics & Precision Medicine, Institute for Molecular Biology & Biotechnology (IMBB), Foundation for Research & Technology Hellas (FORTH), Heraklion, Greece
ELPEN, Inc. Research Institute, Athens, Greece
European University of Cyprus School of Medicine, Nicosia, Cyprus
Medical Genetics, Henry Dunant Hospital, Athens, Greece
National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA
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ELPEN, Inc. Research Institute, Athens, Greece
European University of Cyprus School of Medicine, Nicosia, Cyprus
Medical Genetics, Henry Dunant Hospital, Athens, Greece
National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA
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genomic medicine for more than three decades and I am delighted to see the developments of the latter and their impact on the former. Endocrine Connections is right to want to cover more endocrine genetics, as precision medicine (that is largely based on
Farzaneh Rohani
Farzaneh Rohani
Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran
Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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Mohammad Reza Alai
Mohammad Reza Alai
Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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Sedighe Moradi
Sedighe Moradi
Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, Tehran, Iran
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Davoud Amirkashani
Davoud Amirkashani
Department of Pediatrics Endocrinology and Metabolism, Ali Asghar Children’s Hospital, Iran University of Medical Sciences, Tehran, Iran
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.239.13 ) 10.1136/adc.45.239.13 5440182 10 Greulich WW Pyle SI. Radiograph Atlas of Skeletal Development of the Hand and Wrist. 2nd ed. Stanford, CA, USA : Stanford University Press , 1959 . 11 Bayley N Pinneau SR. Tables for predicting adult
Eva O Melin
Eva O Melin
Department of Clinical Sciences, Endocrinology and Diabetes, Lund University, Lund, Sweden
Department of Research and Development, Växjö, Sweden
Primary Care, Växjö, Sweden
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Department of Research and Development, Växjö, Sweden
Primary Care, Växjö, Sweden
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Jonatan Dereke
Jonatan Dereke
Department of Clinical Sciences Lund, Diabetes Research Laboratory, Lund University, Lund, Sweden
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Maria Thunander
Maria Thunander
Department of Clinical Sciences, Endocrinology and Diabetes, Lund University, Lund, Sweden
Department of Research and Development, Växjö, Sweden
Department of Internal Medicine, Endocrinology and Diabetes, Central Hospital, Växjö, Sweden
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Department of Research and Development, Växjö, Sweden
Department of Internal Medicine, Endocrinology and Diabetes, Central Hospital, Växjö, Sweden
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Magnus Hillman
Magnus Hillman
Department of Clinical Sciences Lund, Diabetes Research Laboratory, Lund University, Lund, Sweden
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-α ( 17 ), which is another inflammatory molecule involved in the development of DR ( 6 ). Increased concentrations of sCD163 have been demonstrated in the vitreous of the eye in patients with proliferative DR, and the sCD163 levels were particularly high
Xiaomei Zhang
Xiaomei Zhang
Department of Endocrinology, Peking University International Hospital, Beijing, China
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Zhangrong Xu
Zhangrong Xu
Diabetes Center, Characteristic Medical Center of Strategic Support Force, Beijing, China
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Xingwu Ran
Xingwu Ran
Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, China
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Linong Ji
Linong Ji
Department of Endocrinology, Peking University International Hospital, Beijing, China
Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China
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Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China
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to LEAD development were also carried into the multiple regression model. Of the candidate variables analyzed, seven factors (age, duration of diabetes, smoking status, blood pressure control, LDL-C, eGFR, and coexistence of cardio- and
