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Article

[Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].

Problemy endokrinologii - 18 Jan 2026

Malievskiy O A, Malievskaya R I, Saifullina E V

Abstract excerpt

Congenital hypogonadotropic hypogonadism (СНH) is a group of diseases caused by impaired synthesis or secretion of gonadotropin-releasing hormone (GnRH) and gonadotropin hormones. At present, more than twenty genes involved in the development of СНН have been described. In the structure of HGH, the most common forms of the disease are caused by pathogenic variants in genes involved in the ontogenesis, migration...

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Share to Gonadotropin-Releasing Hormone
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41640168
DOI: 10.14341/probl13474
PMCID: PMC12954415

Genes

POLR3B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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[Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].PMID 41640168Read ↗

Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.Semantic proximity Read ↗

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

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Semantic proximity Read ↗

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.Semantic proximity Read ↗

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.Semantic proximity Read ↗

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.Semantic proximity Read ↗

[Congenital hypogonadotropic hypogonadism].Semantic proximity Read ↗

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.Semantic proximity Read ↗

[Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism].Semantic proximity Read ↗

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Semantic proximity Read ↗

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatmentSemantic proximity Read ↗

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.Semantic proximity Read ↗

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