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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

dc.rights.licenseopenen_US
dc.contributor.authorPELLETIER, Felixe
dc.contributor.authorPERRIER, Stefanie
dc.contributor.authorCAYAMI, Ferdy K.
dc.contributor.authorMIRCHI, Amytice
dc.contributor.authorSAIKALI, Stephan
dc.contributor.authorTRAN, Luan T.
dc.contributor.authorULRICK, Nicole
dc.contributor.authorGUERRERO, Kether
dc.contributor.authorRAMPAKAKIS, Emmanouil
dc.contributor.authorVAN SPAENDONK, Rosalina M. L.
dc.contributor.authorNAIDU, Sakkuba
dc.contributor.authorPOHL, Daniela
dc.contributor.authorGIBSON, William T.
dc.contributor.authorDEMOS, Michelle
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorGOIZET, Cyril
dc.contributor.authorTEJERA-MARTIN, Ingrid
dc.contributor.authorPOTIC, Ana
dc.contributor.authorFOGEL, Brent L.
dc.contributor.authorBRAIS, Bernard
dc.contributor.authorSYLVAIN, Michel
dc.contributor.authorSEBIRE, Guillaume
dc.contributor.authorLOURENCO, Charles Marques
dc.contributor.authorBONKOWSKY, Joshua L.
dc.contributor.authorCATSMAN-BERREVOETS, Coriene
dc.contributor.authorPINTO, Pedro S.
dc.contributor.authorTIRUPATHI, Sandya
dc.contributor.authorSTROMME, Peter
dc.contributor.authorDE GRAUW, Ton
dc.contributor.authorGIERUSZCZAK-BIALEK, Dorota
dc.contributor.authorKRAGELOH-MANN, Ingeborg
dc.contributor.authorMIERZEWSKA, Hanna
dc.contributor.authorPHILIPPI, Heike
dc.contributor.authorRANKIN, Julia
dc.contributor.authorATIK, Tahir
dc.contributor.authorBANWELL, Brenda
dc.contributor.authorBENKO, William S.
dc.contributor.authorBLASCHEK, Astrid
dc.contributor.authorBLEY, Annette
dc.contributor.authorBOLTSHAUSER, Eugen
dc.contributor.authorBRATKOVIC, Drago
dc.contributor.authorBROZOVA, Klara
dc.contributor.authorCIMAS, Iciar
dc.contributor.authorCLOUGH, Christopher
dc.contributor.authorCORENBLUM, Bernard
dc.contributor.authorDINOPOULOS, Argirios
dc.contributor.authorDOLAN, Gail
dc.contributor.authorFALETRA, Flavio
dc.contributor.authorFERNANDEZ, Raymond
dc.contributor.authorFLETCHER, Janice
dc.contributor.authorGARCIA GARCIA, Maria Eugenia
dc.contributor.authorGASPARINI, Paolo
dc.contributor.authorGBUREK-AUGUSTAT, Janina
dc.contributor.authorGONZALEZ, Moron, Dolores
dc.contributor.authorHAMATI, Aline
dc.contributor.authorHARTING, Inga
dc.contributor.authorHERTZBERG, Christophe
dc.contributor.authorHILL, Alan
dc.contributor.authorHOBSON, Grace M.
dc.contributor.authorINNES, A. Micheil
dc.contributor.authorKAUFFMAN, Marcelo
dc.contributor.authorKIRWIN, Susan M.
dc.contributor.authorKLUGER, Gerhard
dc.contributor.authorKOLDITZ, Petra
dc.contributor.authorKOTZAERIDOU, Urania
dc.contributor.authorLA PIANA, Roberta
dc.contributor.authorLISTON, Eriskay
dc.contributor.authorMCCLINTOCK, William
dc.contributor.authorMCENTAGART, Meriel
dc.contributor.authorMCKENZIE, Fiona
dc.contributor.authorMELANCON, Serge
dc.contributor.authorMISBAHUDDIN, Anjum
dc.contributor.authorSURI, Mohnish
dc.contributor.authorMONTON, Fernando I.
dc.contributor.authorMOUTTON, Sebastien
dc.contributor.authorMURPHY, Raymond P. J.
dc.contributor.authorNICKEL, Miriam
dc.contributor.authorONAY, Huseyin
dc.contributor.authorORCESI, Simona
dc.contributor.authorOZKLNAY, Ferda
dc.contributor.authorPATZER, Steffi
dc.contributor.authorPEDRO, Helio
dc.contributor.authorPEKIC, Sandra
dc.contributor.authorPINEDA MARFA, Mercedes
dc.contributor.authorPIZZINO, Amy
dc.contributor.authorPLECKO, Barbara
dc.contributor.authorPOLL-THE, Bwee Tien
dc.contributor.authorPOPOVIC, Vera
dc.contributor.authorRATING, Dietz
dc.contributor.authorRIOUX, Marie-France
dc.contributor.authorRODRIGUEZ ESPINOSA, Norberto
dc.contributor.authorRONAN, Anne
dc.contributor.authorOSTERGAARD, John R.
dc.contributor.authorROSSIGNOL, Elsa
dc.contributor.authorSANCHEZ-CARPINTERO, Rocio
dc.contributor.authorSCHOSSIG, Anna
dc.contributor.authorSENBIL, Nesrin
dc.contributor.authorSONDERBERG ROOS, Laura K.
dc.contributor.authorSTEVENS, Cathy A.
dc.contributor.authorSYNOFZIK, Matthis
dc.contributor.authorSZTRIHA, Laszlo
dc.contributor.authorTIBUSSEK, Daniel
dc.contributor.authorTIMMANN, Dagmar
dc.contributor.authorTONDUTI, Davide
dc.contributor.authorVAN DE WARRENBURG, Bart P.
dc.contributor.authorVAZQUEZ-LOPEZ, Maria
dc.contributor.authorVENKATESWARAN, Sunita
dc.contributor.authorWASLING, Pontus
dc.contributor.authorWASSMER, Evangeline
dc.contributor.authorWEBSTER, Richard I.
dc.contributor.authorWIEGAND, Gert
dc.contributor.authorYOON, Grace
dc.contributor.authorROTTEVEEL, Joost
dc.contributor.authorSCHIFFMANN, Raphael
dc.contributor.authorVAN DER KNAAP, Marjo S.
dc.contributor.authorVANDERVER, Adeline
dc.contributor.authorMARTOS-MORENO, Gabriel A.
dc.contributor.authorPOLYCHRONAKOS, Constantin
dc.contributor.authorWOLF, Nicole I.
dc.contributor.authorBERNARD, Genevieve
dc.date.accessioned2021-10-26T15:10:53Z
dc.date.available2021-10-26T15:10:53Z
dc.date.issued2021-10-01
dc.identifier.issn0021-972X (print) 1945-7197 (online)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/117084
dc.description.abstractEnContext: 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.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.en4H leukodystrophy
dc.subject.enHypogonadotropic hypogonadism
dc.subject.enHypomyelination
dc.subject.enPOLR3-related leukodystrophy
dc.title.enEndocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
dc.typeArticle de revueen_US
dc.identifier.doi10.1210/clinem/dgaa700en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed33005949en_US
bordeaux.journalJournal of Clinical Endocrinology and Metabolismen_US
bordeaux.pageE660-E674en_US
bordeaux.volume106en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue2en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDCanadian Institutes of Health Researchen_US
bordeaux.identifier.funderIDFonds de recherche du Québecen_US
bordeaux.identifier.funderIDFonds de Recherche du Québec - Santéen_US
hal.identifierhal-03404588
hal.version1
hal.date.transferred2021-10-26T15:11:12Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
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