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Pracoviště: Centre Mère Enfant CHU de Québec Québec City QC Canada

1 záznamů v Medvik Filtry

Článek

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

Pelletier, Félixe
Autor Pelletier, Félixe Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada Department of Pediatrics, McGill University, Montreal, QC, Canada Department of Human Genetics, McGill University, Montreal, QC, Canada Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada Division of Child Neurology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada
Perrier, Stefanie
Autor Perrier, Stefanie Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada
Cayami, Ferdy K
Autor Cayami, Ferdy K Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia
Mirchi, Amytice
Autor Mirchi, Amytice Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada Department of Pediatrics, McGill University, Montreal, QC, Canada Department of Human Genetics, McGill University, Montreal, QC, Canada Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada
Saikali, Stephan
Autor Saikali, Stephan Department of Pathology, Centre Hospitalier Universitaire de Québec, Québec City, QC, Canada
Tran, Luan T
Autor Tran, Luan T Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada Department of Pediatrics, McGill University, Montreal, QC, Canada Department of Human Genetics, McGill University, Montreal, QC, Canada Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada
Ulrick, Nicole
Autor Ulrick, Nicole Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA
Guerrero, Kether
Autor Guerrero, Kether Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada Department of Pediatrics, McGill University, Montreal, QC, Canada Department of Human Genetics, McGill University, Montreal, QC, Canada Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada
Rampakakis, Emmanouil
Autor Rampakakis, Emmanouil Department of Pediatrics, McGill University, Montreal, QC, Canada
van Spaendonk, Rosalina M L
Autor van Spaendonk, Rosalina M L Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

The Journal of clinical endocrinology and metabolism. 2021 ; 106 (2) : e660-e674. [pub] 20210123

J Clin Endocrinol Metab
ISSN 1945-7197
Medvik
Zdroj

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.

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