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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
F. Pelletier, S. Perrier, FK. Cayami, A. Mirchi, S. Saikali, LT. Tran, N. Ulrick, K. Guerrero, E. Rampakakis, RML. van Spaendonk, S. Naidu, D. Pohl, WT. Gibson, M. Demos, C. Goizet, I. Tejera-Martin, A. Potic, BL. Fogel, B. Brais, M. Sylvain, G....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, multicentrická studie, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
R01 NS082094
NINDS NIH HHS - United States
201610PJT-377869
CIHR - Canada
MOP-G2-341146-159133-BRIDG
CIHR - Canada
201603PJT-148695
CIHR - Canada
PubMed
33005949
DOI
10.1210/clinem/dgaa700
Knihovny.cz E-zdroje
- MeSH
- biologická variabilita populace MeSH
- dědičné demyelinizační nemoci CNS komplikace epidemiologie genetika MeSH
- dítě MeSH
- DNA řízené RNA-polymerasy genetika MeSH
- dospělí MeSH
- genetická heterogenita MeSH
- hypogonadismus epidemiologie etiologie MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé MeSH
- mitochondriální nemoci komplikace epidemiologie genetika MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- nemoci endokrinního systému epidemiologie etiologie genetika MeSH
- novorozenec MeSH
- poruchy růstu epidemiologie etiologie genetika MeSH
- předškolní dítě MeSH
- průřezové studie MeSH
- retrospektivní studie MeSH
- RNA-polymerasa III genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
CONTEXT: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. OBJECTIVE: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. DESIGN: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. SETTING: This was a multicenter retrospective study using information collected from 3 predominant centers. PATIENTS: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. MAIN OUTCOME MEASURES: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. RESULTS: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. CONCLUSIONS: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
Bristow Pediatrics Bristow VA USA
Center of Biomedical Research Faculty of Medicine Diponegoro University Semarang Indonesia
Center of Developmental Neurology Frankfurt Germany
Centre for Rare Diseases Aarhus University Hospital Aarhus Denmark
Centre Hospitalier Universitaire de Sherbrooke Hôpital Fleurimont Sherbrooke QC Canada
Centre Mère Enfant CHU de Québec Québec City QC Canada
Child Neurology and Psychiatry Unit IRCCS Mondino Foundation Pavia Italy
Child Neurology Unit 5 Buzzi Children's Hospital Milano Italy
Children's Hospital St Elisabeth and St Barbara Halle Germany
CIBER de Fisiopatologia de la Obesidad y Nutriciόn Instituto de Salud Carlos 3 Madrid Spain
Department of Child and Adolescent Neurology Institute of Mother and Child Warsaw Poland
Department of Child Neurology Indiana University Indianapolis IN USA
Department of Child Neurology Kantonsspital Luzern Luzern Switzerland
Department of Child Neurology Kırıkkale University Medical Faculty Kırıkkale Turkey
Department of Child Neurology Thomayers Hospital Prague Czech Republic
Department of Child Neurology University Children's Hospital Heidelberg Heidelberg Germany
Department of Child Neurology University Children's Hospital Tübingen Tübingen Germany
Department of Child Neurology University Children's Hospital Zurich Zurich Switzerland
Department of Child Neurology Vivantes Klinikum Berlin Germany
Department of Clinical Genetics Amsterdam UMC Vrije Universiteit Amsterdam Amsterdam The Netherlands
Department of Genetics MetroHealth Hospital Cleveland OH USA
Department of Human Genetics McGill University Montreal QC Canada
Department of Medical Genetics Children's Memorial Health Institute Warsaw Poland
Department of Medical Genetics Ege University Izmir Turkey
Department of Neurology and Neurosurgery McGill University Montreal QC Canada
Department of Neurology Children's Hospital of Philadelphia Philadelphia PA USA
Department of Neurology Children's National Medical Center Washington DC USA
Department of Neurology Essen University Hospital University of Duisburg Essen Essen Germany
Department of Neurology King's College Hospital London UK
Department of Neurology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA
Department of Neurology Povisa Hospital Vigo Spain
Department of Neurology Tallaght University Hospital Tallaght Ireland
Department of Neurology The Royal London Hospital London UK
Department of Neuroradiology University Hospital Heidelberg Heidelberg Germany
Department of Paediatric Neurology Royal Belfast Hospital for Sick Children Belfast UK
Department of Paediatric Neurology University Children's Hospital Heidelberg Germany
Department of Paediatrics University of Szeged Szeged Hungary
Department of Pathology Centre Hospitalier Universitaire de Québec Québec City QC Canada
Department of Pediatric Neurology Emma Children's Hospital 1105 Amsterdam The Netherlands
Department of Pediatric Neurology University Hospital Kiel Germany
Department of Pediatrics Emory School of Medicine Atlanta GA USA
Department of Pediatrics McGill University Montreal QC Canada
Department of Pediatrics Medical University of Warsaw Warsaw Poland
Department of Pediatrics Universidad Autónoma de Madrid 28049 Madrid Spain
Department of Pediatrics Université de Sherbrooke Sherbrooke QC Canada
Department of Pediatrics University Medical Center Hamburg Eppendorf Hamburg Germany
Department of Pediatrics University of British Columbia Vancouver BC Canada
Department of Pediatrics University of Utah School of Medicine Salt Lake City UT USA
Division of Clinical and Metabolic Genetics The Hospital for Sick Children Toronto ON Canada
Division of Genetics Department of Pediatrics School of Medicine Ege University Izmir Turkey
Division of Neurology Children's Hospital of Eastern Ontario University of Ottawa Ottawa ON Canada
Division of Neurology Children's Hospital of Philadelphia Philadelphia PA USA
Division of Pediatric Neurology Department of Neurology UC Davis Health System Sacramento CA USA
Essex Centre for Neurological Sciences Queen's Hospital Romford UK
Faculdade de Medicina Centro Universitario Estácio de Ribeirão Preto Ribeirão Preto SP Brazil
Genetic Services of Western Australia Subiaco WA Australia
Genetics and Molecular Pathology Women's and Children's Hospital Adelaide South Australia Australia
Hospital Sant Joan de Deu Passeig de Sant Joan de Deu nº2 Barcelona Spain
Hunter New England LHD University of Newcastle NSW Australia
Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste Italy
Institute of Human Genetics Medical University Innsbruck Innsbruck Austria
Institute of Metabolic Disease Baylor Scott and White Research Institute Dallas TX USA
Medical Faculty University of Belgrade Belgrade Serbia
Metabolic Clinic Women's and Children's Hospital North Adelaide South Australia Australia
Molecular Diagnostics Laboratory Nemours Alfred 1 duPont Hospital for Children Wilmington DE USA
Montreal Neurological Institute Montreal QC Canada
Nemours Biomedical Research Nemours Alfred 1 duPont Hospital for Children Wilmington DE USA
Neurogenetics Unit Department of Neurology Hospital JM Ramos Mejia ADC Buenos Aires Argentina
Neuroradiology Department Centro Hospitalar do Porto Porto Portugal
Paediatric Neurology Birmingham Children's Hospital Birmingham UK
Pediatric Neurology Associates Tampa FL USA
Pediatric Neurology Unit Department of Pediatrics Clinica Universidad de Navarra Pamplona Spain
Pediatric Specialists of Virginia Fairfax VA USA
Peninsula Clinical Genetics Service Royal Devon and Exeter NHS Foundation Trust Exeter UK
PMU Salzburg 5020 Salzburg Austria
School of Paediatrics and Child Health University of Western Australia Perth WA Australia
Sección Neuropediatría Hospital Maternoinfantil Gregorio Marañón Madrid Spain
Service de Génétique Médicale CHU de Bordeaux Bordeaux France
South West Thames Regional Genetics Service St George's Hospital London UK
University Children's Hospital University Medical Center Hamburg Eppendorf Hamburg Germany
Citace poskytuje Crossref.org
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- $a CONTEXT: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. OBJECTIVE: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. DESIGN: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. SETTING: This was a multicenter retrospective study using information collected from 3 predominant centers. PATIENTS: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. MAIN OUTCOME MEASURES: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. RESULTS: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. CONCLUSIONS: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
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- $a Moutton, Sebastien $u Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France
- 700 1_
- $a Murphy, Raymond P J $u Department of Neurology, Tallaght University Hospital, Tallaght, Ireland
- 700 1_
- $a Nickel, Miriam $u Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
- 700 1_
- $a Onay, Hüseyin $u Department of Medical Genetics, Ege University, Izmir, Turkey
- 700 1_
- $a Orcesi, Simona $u Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy
- 700 1_
- $a Özkınay, Ferda $u Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey
- 700 1_
- $a Patzer, Steffi $u Children's Hospital St. Elisabeth and St. Barbara, Halle (Saale), Germany
- 700 1_
- $a Pedro, Helio $u Department of Pediatrics, The Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, NJ, USA
- 700 1_
- $a Pekic, Sandra $u Clinic for Endocrinology, Diabetes and Diseases of Metabolism, University Clinical Center, Belgrade & School of Medicine, University of Belgrade, Belgrade, Serbia
- 700 1_
- $a Pineda Marfa, Mercedes $u Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu nº2, Barcelona, Spain
- 700 1_
- $a Pizzino, Amy $u Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA $u Department of Genetics, MetroHealth Hospital, Cleveland, OH, USA
- 700 1_
- $a Plecko, Barbara $u Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria
- 700 1_
- $a Poll-The, Bwee Tien $u Department of Pediatric Neurology, Emma Children's Hospital, 1105 Amsterdam, The Netherlands
- 700 1_
- $a Popovic, Vera $u Medical Faculty, University of Belgrade, Belgrade, Serbia
- 700 1_
- $a Rating, Dietz $u Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany
- 700 1_
- $a Rioux, Marie-France $u Centre Hospitalier Universitaire de Sherbrooke - Hôpital Fleurimont, Sherbrooke, QC, Canada
- 700 1_
- $a Rodriguez Espinosa, Norberto $u Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain
- 700 1_
- $a Ronan, Anne $u Hunter New England LHD, University of Newcastle, NSW, Australia
- 700 1_
- $a Ostergaard, John R $u Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark
- 700 1_
- $a Rossignol, Elsa $u Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Université de Montréal, Montreal, QC, Canada
- 700 1_
- $a Sanchez-Carpintero, Rocio $u Pediatric Neurology Unit, Department of Pediatrics, Clinica Universidad de Navarra, Pamplona, Spain
- 700 1_
- $a Schossig, Anna $u Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
- 700 1_
- $a Senbil, Nesrin $u Department of Child Neurology, Kırıkkale University Medical Faculty, Kırıkkale, Turkey
- 700 1_
- $a Sønderberg Roos, Laura K $u Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
- 700 1_
- $a Stevens, Cathy A $u Department of Pediatrics, Division of Medical Genetics, University of Tennessee College of Medicine, Chattanooga, TN, USA
- 700 1_
- $a Synofzik, Matthis $u Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany
- 700 1_
- $a Sztriha, László $u Department of Paediatrics, University of Szeged, Szeged, Hungary
- 700 1_
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- 700 1_
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- 700 1_
- $a Tonduti, Davide $u Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy
- 700 1_
- $a van de Warrenburg, Bart P $u Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands
- 700 1_
- $a Vázquez-López, Maria $u Sección Neuropediatría. Hospital Maternoinfantil Gregorio Marañón, Madrid, Spain
- 700 1_
- $a Venkateswaran, Sunita $u Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada
- 700 1_
- $a Wasling, Pontus $u Department of Neuroscience and Rehabilitation, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
- 700 1_
- $a Wassmer, Evangeline $u Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK
- 700 1_
- $a Webster, Richard I $u T. Y. Nelson Department of Neurology and Neurosurgery and the Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia
- 700 1_
- $a Wiegand, Gert $u Department of Pediatric Neurology, University Hospital Kiel, Germany $u Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany
- 700 1_
- $a Yoon, Grace $u Division of Clinical and Metabolic Genetics, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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