% IMPORTANT: The following is UTF-8 encoded. This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.
@ARTICLE{Pelletier:164192,
author = {Pelletier, Félixe and Perrier, Stefanie and Cayami, Ferdy
K and Mirchi, Amytice and Saikali, Stephan and Tran, Luan T
and Ulrick, Nicole and Guerrero, Kether and Rampakakis,
Emmanouil and van Spaendonk, Rosalina M L and Naidu,
Sakkubai and Pohl, Daniela and Gibson, William T and Demos,
Michelle and Goizet, Cyril and Tejera-Martin, Ingrid and
Potic, Ana and Fogel, Brent L and Brais, Bernard and
Sylvain, Michel and Sébire, Guillaume and Lourenço,
Charles Marques and Bonkowsky, Joshua L and
Catsman-Berrevoets, Coriene and Pinto, Pedro S and
Tirupathi, Sandya and Strømme, Petter and de Grauw, Ton and
Gieruszczak-Bialek, Dorota and Kragelöh-Mann, Ingeborg and
Mierzewska, Hanna and Philippi, Heike and Rankin, Julia and
Atik, Tahir and Banwell, Brenda and Benko, William S and
Blaschek, Astrid and Bley, Annette and Boltshauser, Eugen
and Bratkovic, Drago and Brozova, Klara and Cimas, Icíar
and Clough, Christopher and Corenblum, Bernard and
Dinopoulos, Argirios and Dolan, Gail and Faletra, Flavio and
Fernandez, Raymond and Fletcher, Janice and Garcia Garcia,
Maria Eugenia and Gasparini, Paolo and Gburek-Augustat,
Janina and Gonzalez Moron, Dolores and Hamati, Aline and
Harting, Inga and Hertzberg, Christoph and Hill, Alan and
Hobson, Grace M and Innes, A Micheil and Kauffman, Marcelo
and Kirwin, Susan M and Kluger, Gerhard and Kolditz, Petra
and Kotzaeridou, Urania and La Piana, Roberta and Liston,
Eriskay and McClintock, William and McEntagart, Meriel and
McKenzie, Fiona and Melançon, Serge and Misbahuddin, Anjum
and Suri, Mohnish and Monton, Fernando I and Moutton,
Sebastien and Murphy, Raymond P J and Nickel, Miriam and
Onay, Hüseyin and Orcesi, Simona and Özkınay, Ferda and
Patzer, Steffi and Pedro, Helio and Pekic, Sandra and Pineda
Marfa, Mercedes and Pizzino, Amy and Plecko, Barbara and
Poll-The, Bwee Tien and Popovic, Vera and Rating, Dietz and
Rioux, Marie-France and Rodriguez Espinosa, Norberto and
Ronan, Anne and Ostergaard, John R and Rossignol, Elsa and
Sanchez-Carpintero, Rocio and Schossig, Anna and Senbil,
Nesrin and Sønderberg Roos, Laura K and Stevens, Cathy A
and Synofzik, Matthis and Sztriha, László and Tibussek,
Daniel and Timmann, Dagmar and Tonduti, Davide and van de
Warrenburg, Bart P and Vázquez-López, Maria and
Venkateswaran, Sunita and Wasling, Pontus and Wassmer,
Evangeline and Webster, Richard I and Wiegand, Gert and
Yoon, Grace and Rotteveel, Joost and Schiffmann, Raphael and
van der Knaap, Marjo S and Vanderver, Adeline and
Martos-Moreno, Gabriel Á and Polychronakos, Constantin and
Wolf, Nicole I and Bernard, Geneviève},
title = {{E}ndocrine and {G}rowth {A}bnormalities in 4{H}
{L}eukodystrophy {C}aused by {V}ariants in {POLR}3{A},
{POLR}3{B}, and {POLR}1{C}.},
journal = {The journal of clinical endocrinology $\&$ metabolism},
volume = {106},
number = {2},
issn = {0021-972X},
address = {Oxford},
publisher = {Oxford University Press},
reportid = {DZNE-2022-00848},
pages = {e660 - e674},
year = {2021},
abstract = {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.},
keywords = {Adolescent / Adult / Biological Variation, Population /
Child / 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
/ Infant, Newborn / Male / Mitochondrial Diseases:
complications / Mitochondrial Diseases: epidemiology /
Mitochondrial Diseases: genetics / Mutation / RNA Polymerase
III: genetics / Retrospective Studies / Young Adult / 4H
leukodystrophy (Other) / POLR3-related leukodystrophy
(Other) / hypogonadotropic hypogonadism (Other) /
hypomyelination (Other) / DNA-Directed RNA Polymerases (NLM
Chemicals) / POLR1C protein, human (NLM Chemicals) / POLR3A
protein, human (NLM Chemicals) / POLR3B protein, human (NLM
Chemicals) / RNA Polymerase III (NLM Chemicals)},
cin = {AG Gasser},
ddc = {610},
cid = {I:(DE-2719)1210000},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33005949},
pmc = {pmc:PMC7823228},
doi = {10.1210/clinem/dgaa700},
url = {https://pub.dzne.de/record/164192},
}
guest ::