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000164192 0247_ $$2ISSN$$a1945-7197
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000164192 037__ $$aDZNE-2022-00848
000164192 041__ $$aEnglish
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000164192 1001_ $$aPelletier, Félixe$$b0
000164192 245__ $$aEndocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
000164192 260__ $$aOxford$$bOxford University Press$$c2021
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000164192 520__ $$a4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date.To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy.An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated.This was a multicenter retrospective study using information collected from 3 predominant centers.A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included.Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts.The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients.Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
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000164192 650_7 $$2Other$$a4H leukodystrophy
000164192 650_7 $$2Other$$aPOLR3-related leukodystrophy
000164192 650_7 $$2Other$$ahypogonadotropic hypogonadism
000164192 650_7 $$2Other$$ahypomyelination
000164192 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aDNA-Directed RNA Polymerases
000164192 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aPOLR1C protein, human
000164192 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aPOLR3A protein, human
000164192 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aPOLR3B protein, human
000164192 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aRNA Polymerase III
000164192 650_2 $$2MeSH$$aAdolescent
000164192 650_2 $$2MeSH$$aAdult
000164192 650_2 $$2MeSH$$aBiological Variation, Population
000164192 650_2 $$2MeSH$$aChild
000164192 650_2 $$2MeSH$$aChild, Preschool
000164192 650_2 $$2MeSH$$aCohort Studies
000164192 650_2 $$2MeSH$$aCross-Sectional Studies
000164192 650_2 $$2MeSH$$aDNA-Directed RNA Polymerases: genetics
000164192 650_2 $$2MeSH$$aEndocrine System Diseases: epidemiology
000164192 650_2 $$2MeSH$$aEndocrine System Diseases: etiology
000164192 650_2 $$2MeSH$$aEndocrine System Diseases: genetics
000164192 650_2 $$2MeSH$$aFemale
000164192 650_2 $$2MeSH$$aGenetic Heterogeneity
000164192 650_2 $$2MeSH$$aGrowth Disorders: epidemiology
000164192 650_2 $$2MeSH$$aGrowth Disorders: etiology
000164192 650_2 $$2MeSH$$aGrowth Disorders: genetics
000164192 650_2 $$2MeSH$$aHereditary Central Nervous System Demyelinating Diseases: complications
000164192 650_2 $$2MeSH$$aHereditary Central Nervous System Demyelinating Diseases: epidemiology
000164192 650_2 $$2MeSH$$aHereditary Central Nervous System Demyelinating Diseases: genetics
000164192 650_2 $$2MeSH$$aHumans
000164192 650_2 $$2MeSH$$aHypogonadism: epidemiology
000164192 650_2 $$2MeSH$$aHypogonadism: etiology
000164192 650_2 $$2MeSH$$aInfant
000164192 650_2 $$2MeSH$$aInfant, Newborn
000164192 650_2 $$2MeSH$$aMale
000164192 650_2 $$2MeSH$$aMitochondrial Diseases: complications
000164192 650_2 $$2MeSH$$aMitochondrial Diseases: epidemiology
000164192 650_2 $$2MeSH$$aMitochondrial Diseases: genetics
000164192 650_2 $$2MeSH$$aMutation
000164192 650_2 $$2MeSH$$aRNA Polymerase III: genetics
000164192 650_2 $$2MeSH$$aRetrospective Studies
000164192 650_2 $$2MeSH$$aYoung Adult
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