TY  - JOUR
AU  - Pelletier, Félixe
AU  - Perrier, Stefanie
AU  - Cayami, Ferdy K
AU  - Mirchi, Amytice
AU  - Saikali, Stephan
AU  - Tran, Luan T
AU  - Ulrick, Nicole
AU  - Guerrero, Kether
AU  - Rampakakis, Emmanouil
AU  - van Spaendonk, Rosalina M L
AU  - Naidu, Sakkubai
AU  - Pohl, Daniela
AU  - Gibson, William T
AU  - Demos, Michelle
AU  - Goizet, Cyril
AU  - Tejera-Martin, Ingrid
AU  - Potic, Ana
AU  - Fogel, Brent L
AU  - Brais, Bernard
AU  - Sylvain, Michel
AU  - Sébire, Guillaume
AU  - Lourenço, Charles Marques
AU  - Bonkowsky, Joshua L
AU  - Catsman-Berrevoets, Coriene
AU  - Pinto, Pedro S
AU  - Tirupathi, Sandya
AU  - Strømme, Petter
AU  - de Grauw, Ton
AU  - Gieruszczak-Bialek, Dorota
AU  - Kragelöh-Mann, Ingeborg
AU  - Mierzewska, Hanna
AU  - Philippi, Heike
AU  - Rankin, Julia
AU  - Atik, Tahir
AU  - Banwell, Brenda
AU  - Benko, William S
AU  - Blaschek, Astrid
AU  - Bley, Annette
AU  - Boltshauser, Eugen
AU  - Bratkovic, Drago
AU  - Brozova, Klara
AU  - Cimas, Icíar
AU  - Clough, Christopher
AU  - Corenblum, Bernard
AU  - Dinopoulos, Argirios
AU  - Dolan, Gail
AU  - Faletra, Flavio
AU  - Fernandez, Raymond
AU  - Fletcher, Janice
AU  - Garcia Garcia, Maria Eugenia
AU  - Gasparini, Paolo
AU  - Gburek-Augustat, Janina
AU  - Gonzalez Moron, Dolores
AU  - Hamati, Aline
AU  - Harting, Inga
AU  - Hertzberg, Christoph
AU  - Hill, Alan
AU  - Hobson, Grace M
AU  - Innes, A Micheil
AU  - Kauffman, Marcelo
AU  - Kirwin, Susan M
AU  - Kluger, Gerhard
AU  - Kolditz, Petra
AU  - Kotzaeridou, Urania
AU  - La Piana, Roberta
AU  - Liston, Eriskay
AU  - McClintock, William
AU  - McEntagart, Meriel
AU  - McKenzie, Fiona
AU  - Melançon, Serge
AU  - Misbahuddin, Anjum
AU  - Suri, Mohnish
AU  - Monton, Fernando I
AU  - Moutton, Sebastien
AU  - Murphy, Raymond P J
AU  - Nickel, Miriam
AU  - Onay, Hüseyin
AU  - Orcesi, Simona
AU  - Özkınay, Ferda
AU  - Patzer, Steffi
AU  - Pedro, Helio
AU  - Pekic, Sandra
AU  - Pineda Marfa, Mercedes
AU  - Pizzino, Amy
AU  - Plecko, Barbara
AU  - Poll-The, Bwee Tien
AU  - Popovic, Vera
AU  - Rating, Dietz
AU  - Rioux, Marie-France
AU  - Rodriguez Espinosa, Norberto
AU  - Ronan, Anne
AU  - Ostergaard, John R
AU  - Rossignol, Elsa
AU  - Sanchez-Carpintero, Rocio
AU  - Schossig, Anna
AU  - Senbil, Nesrin
AU  - Sønderberg Roos, Laura K
AU  - Stevens, Cathy A
AU  - Synofzik, Matthis
AU  - Sztriha, László
AU  - Tibussek, Daniel
AU  - Timmann, Dagmar
AU  - Tonduti, Davide
AU  - van de Warrenburg, Bart P
AU  - Vázquez-López, Maria
AU  - Venkateswaran, Sunita
AU  - Wasling, Pontus
AU  - Wassmer, Evangeline
AU  - Webster, Richard I
AU  - Wiegand, Gert
AU  - Yoon, Grace
AU  - Rotteveel, Joost
AU  - Schiffmann, Raphael
AU  - van der Knaap, Marjo S
AU  - Vanderver, Adeline
AU  - Martos-Moreno, Gabriel Á
AU  - Polychronakos, Constantin
AU  - Wolf, Nicole I
AU  - Bernard, Geneviève
TI  - Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
JO  - The journal of clinical endocrinology & metabolism
VL  - 106
IS  - 2
SN  - 0021-972X
CY  - Oxford
PB  - Oxford University Press
M1  - DZNE-2022-00848
SP  - e660 - e674
PY  - 2021
AB  - 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
KW  - Adolescent
KW  - Adult
KW  - Biological Variation, Population
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - Cross-Sectional Studies
KW  - DNA-Directed RNA Polymerases: genetics
KW  - Endocrine System Diseases: epidemiology
KW  - Endocrine System Diseases: etiology
KW  - Endocrine System Diseases: genetics
KW  - Female
KW  - Genetic Heterogeneity
KW  - Growth Disorders: epidemiology
KW  - Growth Disorders: etiology
KW  - Growth Disorders: genetics
KW  - Hereditary Central Nervous System Demyelinating Diseases: complications
KW  - Hereditary Central Nervous System Demyelinating Diseases: epidemiology
KW  - Hereditary Central Nervous System Demyelinating Diseases: genetics
KW  - Humans
KW  - Hypogonadism: epidemiology
KW  - Hypogonadism: etiology
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mitochondrial Diseases: complications
KW  - Mitochondrial Diseases: epidemiology
KW  - Mitochondrial Diseases: genetics
KW  - Mutation
KW  - RNA Polymerase III: genetics
KW  - Retrospective Studies
KW  - Young Adult
KW  - 4H leukodystrophy (Other)
KW  - POLR3-related leukodystrophy (Other)
KW  - hypogonadotropic hypogonadism (Other)
KW  - hypomyelination (Other)
KW  - DNA-Directed RNA Polymerases (NLM Chemicals)
KW  - POLR1C protein, human (NLM Chemicals)
KW  - POLR3A protein, human (NLM Chemicals)
KW  - POLR3B protein, human (NLM Chemicals)
KW  - RNA Polymerase III (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:33005949
C2  - pmc:PMC7823228
DO  - DOI:10.1210/clinem/dgaa700
UR  - https://pub.dzne.de/record/164192
ER  -