Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
dc.date.accessioned | 2022-04-20T16:36:26Z | |
dc.date.available | 2022-04-20T16:36:26Z | |
dc.date.created | 2022-03-03T13:16:22Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Pelletier, Félixe Perrier, Stefanie Cayami, Ferdy K. Mirchi, Amytice Saikali, Stephan Tran, Luan T. Ulrick, Nicole Guerrero, Kether Rampakakis, Emmanouil Van Spaendonk, Rosalina M. L. Naidu, Sakkubai Pohl, Daniela Gibson, William T. Demos, Michelle Goizet, Cyril Tejera-Martin, Ingrid Potic, Ana Fogel, Brent Brais, Bernard Sylvain, Michel Sébire, Guillaume Lourenco, Charles Marques Bonkowsky, Joshua L. Catsman-Berrevoets, Coriene Pinto, Pedro S. Tirupathi, Sandya Strømme, Petter De Grauw, Ton Gieruszczak-Bialek, Dorota Krägeloh-Mann, Ingeborg Mierzewska, Hanna Philippi, Heike Rankin, Julia Atik, Tahir Banwell, Brenda Benko, William S. Blaschek, Astrid Bley, Annette Boltshauser, Eugen Bratkovic, Drago Brozova, Klara Cimas, Icíar Clough, Christopher Corenblum, Bernard Dinopoulos, Argirios Dolan, Gail Faletra, Flavio Fernandez, Raymond Fletcher, Janice M. Garcia Garcia, Maria Eugenia Gasparini, Paolo Gburek-Augustat, Janina Gonzalez Moron, Dolores Hamati, Aline Harting, Inga Hertzberg, Christoph Hill, Alan Hobson, Grace M. Innes, A. Micheil Kauffman, Marcelo Kirwin, Susan M. Kluger, Gerhard Kolditz, Petra Kotzaeridou, Urania La Piana, Roberta Liston, Eriskay McClintock, William McEntagart, Meriel McKenzie, Fiona Melançon, Serge Misbahuddin, Anjum Suri, Mohnish Monton, Fernando I. Moutton, Sebastien Murphy, Raymond P. J. Nickel, Miriam Onay, Hüseyin Orcesi, Simona Özklnay, Ferda Patzer, Steffi Pedro, Helio Pekic, Sandra Pineda Marfa, Mercedes Pizzino, Amy Plecko, Barbara Poll-The, Bwee Tien Popovic, Vera Rating, Dietz Rioux, Marie-France Rodriguez Espinosa, Norberto Ronan, Anne Ostergaard, John R. Rossignol, Elsa Sanchez-Carpintero, Rocio Schossig, Anna Senbil, Nesrin Sønderberg Roos, Laura K. Stevens, CA Synofzik, Matthis Sztriha, László Tibussek, Daniel Timmann, Dagmar Tonduti, Davide Van De Warrenburg, Bart P. Vázquez-López, Maria Venkateswaran, Sunita Wasling, Pontus Wassmer, Evangeline Webster, Richard Wiegand, Gert Yoon, Grace Rotteveel, Joost Schiffmann, Raphael Van Der Knaap, Marjo S. Vanderver, Adeline Martos-Moreno, Gabriel Á Polychronakos, Constantin Wolf, Nicole I. Bernard, Genevieve . Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Journal of Clinical Endocrinology and Metabolism (JCEM). 2021, 106(2), E660-E674 | |
dc.identifier.uri | http://hdl.handle.net/10852/93640 | |
dc.description.abstract | Abstract 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. | |
dc.language | EN | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C | |
dc.type | Journal article | |
dc.creator.author | Pelletier, Félixe | |
dc.creator.author | Perrier, Stefanie | |
dc.creator.author | Cayami, Ferdy K. | |
dc.creator.author | Mirchi, Amytice | |
dc.creator.author | Saikali, Stephan | |
dc.creator.author | Tran, Luan T. | |
dc.creator.author | Ulrick, Nicole | |
dc.creator.author | Guerrero, Kether | |
dc.creator.author | Rampakakis, Emmanouil | |
dc.creator.author | Van Spaendonk, Rosalina M. L. | |
dc.creator.author | Naidu, Sakkubai | |
dc.creator.author | Pohl, Daniela | |
dc.creator.author | Gibson, William T. | |
dc.creator.author | Demos, Michelle | |
dc.creator.author | Goizet, Cyril | |
dc.creator.author | Tejera-Martin, Ingrid | |
dc.creator.author | Potic, Ana | |
dc.creator.author | Fogel, Brent | |
dc.creator.author | Brais, Bernard | |
dc.creator.author | Sylvain, Michel | |
dc.creator.author | Sébire, Guillaume | |
dc.creator.author | Lourenco, Charles Marques | |
dc.creator.author | Bonkowsky, Joshua L. | |
dc.creator.author | Catsman-Berrevoets, Coriene | |
dc.creator.author | Pinto, Pedro S. | |
dc.creator.author | Tirupathi, Sandya | |
dc.creator.author | Strømme, Petter | |
dc.creator.author | De Grauw, Ton | |
dc.creator.author | Gieruszczak-Bialek, Dorota | |
dc.creator.author | Krägeloh-Mann, Ingeborg | |
dc.creator.author | Mierzewska, Hanna | |
dc.creator.author | Philippi, Heike | |
dc.creator.author | Rankin, Julia | |
dc.creator.author | Atik, Tahir | |
dc.creator.author | Banwell, Brenda | |
dc.creator.author | Benko, William S. | |
dc.creator.author | Blaschek, Astrid | |
dc.creator.author | Bley, Annette | |
dc.creator.author | Boltshauser, Eugen | |
dc.creator.author | Bratkovic, Drago | |
dc.creator.author | Brozova, Klara | |
dc.creator.author | Cimas, Icíar | |
dc.creator.author | Clough, Christopher | |
dc.creator.author | Corenblum, Bernard | |
dc.creator.author | Dinopoulos, Argirios | |
dc.creator.author | Dolan, Gail | |
dc.creator.author | Faletra, Flavio | |
dc.creator.author | Fernandez, Raymond | |
dc.creator.author | Fletcher, Janice M. | |
dc.creator.author | Garcia Garcia, Maria Eugenia | |
dc.creator.author | Gasparini, Paolo | |
dc.creator.author | Gburek-Augustat, Janina | |
dc.creator.author | Gonzalez Moron, Dolores | |
dc.creator.author | Hamati, Aline | |
dc.creator.author | Harting, Inga | |
dc.creator.author | Hertzberg, Christoph | |
dc.creator.author | Hill, Alan | |
dc.creator.author | Hobson, Grace M. | |
dc.creator.author | Innes, A. Micheil | |
dc.creator.author | Kauffman, Marcelo | |
dc.creator.author | Kirwin, Susan M. | |
dc.creator.author | Kluger, Gerhard | |
dc.creator.author | Kolditz, Petra | |
dc.creator.author | Kotzaeridou, Urania | |
dc.creator.author | La Piana, Roberta | |
dc.creator.author | Liston, Eriskay | |
dc.creator.author | McClintock, William | |
dc.creator.author | McEntagart, Meriel | |
dc.creator.author | McKenzie, Fiona | |
dc.creator.author | Melançon, Serge | |
dc.creator.author | Misbahuddin, Anjum | |
dc.creator.author | Suri, Mohnish | |
dc.creator.author | Monton, Fernando I. | |
dc.creator.author | Moutton, Sebastien | |
dc.creator.author | Murphy, Raymond P. J. | |
dc.creator.author | Nickel, Miriam | |
dc.creator.author | Onay, Hüseyin | |
dc.creator.author | Orcesi, Simona | |
dc.creator.author | Özklnay, Ferda | |
dc.creator.author | Patzer, Steffi | |
dc.creator.author | Pedro, Helio | |
dc.creator.author | Pekic, Sandra | |
dc.creator.author | Pineda Marfa, Mercedes | |
dc.creator.author | Pizzino, Amy | |
dc.creator.author | Plecko, Barbara | |
dc.creator.author | Poll-The, Bwee Tien | |
dc.creator.author | Popovic, Vera | |
dc.creator.author | Rating, Dietz | |
dc.creator.author | Rioux, Marie-France | |
dc.creator.author | Rodriguez Espinosa, Norberto | |
dc.creator.author | Ronan, Anne | |
dc.creator.author | Ostergaard, John R. | |
dc.creator.author | Rossignol, Elsa | |
dc.creator.author | Sanchez-Carpintero, Rocio | |
dc.creator.author | Schossig, Anna | |
dc.creator.author | Senbil, Nesrin | |
dc.creator.author | Sønderberg Roos, Laura K. | |
dc.creator.author | Stevens, CA | |
dc.creator.author | Synofzik, Matthis | |
dc.creator.author | Sztriha, László | |
dc.creator.author | Tibussek, Daniel | |
dc.creator.author | Timmann, Dagmar | |
dc.creator.author | Tonduti, Davide | |
dc.creator.author | Van De Warrenburg, Bart P. | |
dc.creator.author | Vázquez-López, Maria | |
dc.creator.author | Venkateswaran, Sunita | |
dc.creator.author | Wasling, Pontus | |
dc.creator.author | Wassmer, Evangeline | |
dc.creator.author | Webster, Richard | |
dc.creator.author | Wiegand, Gert | |
dc.creator.author | Yoon, Grace | |
dc.creator.author | Rotteveel, Joost | |
dc.creator.author | Schiffmann, Raphael | |
dc.creator.author | Van Der Knaap, Marjo S. | |
dc.creator.author | Vanderver, Adeline | |
dc.creator.author | Martos-Moreno, Gabriel Á | |
dc.creator.author | Polychronakos, Constantin | |
dc.creator.author | Wolf, Nicole I. | |
dc.creator.author | Bernard, Genevieve | |
cristin.unitcode | 185,53,46,0 | |
cristin.unitname | Barne- og ungdomsklinikken | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 2007358 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal of Clinical Endocrinology and Metabolism (JCEM)&rft.volume=106&rft.spage=E660&rft.date=2021 | |
dc.identifier.jtitle | Journal of Clinical Endocrinology and Metabolism (JCEM) | |
dc.identifier.volume | 106 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | e660 | |
dc.identifier.endpage | e674 | |
dc.identifier.doi | https://doi.org/10.1210/clinem/dgaa700 | |
dc.identifier.urn | URN:NBN:no-96185 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 0021-972X | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/93640/1/Pelletier_et_al_2021.pdf | |
dc.type.version | PublishedVersion |
Files in this item
Appears in the following Collection
-
Institutt for klinisk medisin [10814]
-
CRIStin høstingsarkiv [31446]