دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Naidu, Sakkubai, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Pohl, Daniela, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Cayami, Ferdy K, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Kragelöh-Mann, Ingeborg, Mirchi, Amytice, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Saikali, Stephan, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Tran, Luan T, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Ulrick, Nicole, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Guerrero, Kether, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Rampakakis, Emmanouil, 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, van Spaendonk, Rosalina M L, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László
المصدر: The journal of clinical endocrinology & metabolism 106(2), e660 - e674 (2021). doi:10.1210/clinem/dgaa700
بيانات النشر: Oxford University Press
سنة النشر: 2021
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Adult, Biological Variation, Population, Child, Preschool, Cohort Studies, Cross-Sectional Studies, DNA-Directed RNA Polymerases: genetics, Endocrine System Diseases: epidemiology, Endocrine System Diseases: etiology, Endocrine System Diseases: genetics, Female, Genetic Heterogeneity, Growth Disorders: epidemiology, Growth Disorders: etiology, Growth Disorders: genetics, Hereditary Central Nervous System Demyelinating Diseases: complications, Hereditary Central Nervous System Demyelinating Diseases: epidemiology, Hereditary Central Nervous System Demyelinating Diseases: genetics, Humans, Hypogonadism: epidemiology, Hypogonadism: etiology, Infant, Newborn, Male, Mitochondrial Diseases: complications, Mitochondrial Diseases: epidemiology, Mitochondrial Diseases: genetics
جغرافية الموضوع: DE
الوصف: 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.To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy.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.This was a multicenter retrospective study using information collected from 3 predominant centers.A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included.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.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.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.
نوع الوثيقة: article in journal/newspaper
اللغة: English
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1945-7197; info:eu-repo/semantics/altIdentifier/pmid/pmid:33005949; info:eu-repo/semantics/altIdentifier/issn/2578-7241; info:eu-repo/semantics/altIdentifier/issn/0021-972X; info:eu-repo/semantics/altIdentifier/issn/0368-1610; https://pub.dzne.de/record/164192Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00848%22Test
الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://pub.dzne.de/record/164192Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-00848%22Test
حقوق: info:eu-repo/semantics/closedAccess
رقم الانضمام: edsbas.34ECDBD7
قاعدة البيانات: BASE
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Array ( [Name] => Abstract [Label] => Description [Group] => Ab [Data] => 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.To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy.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.This was a multicenter retrospective study using information collected from 3 predominant centers.A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included.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.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.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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