ArticleFrontiers in endocrinology2022
The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.
Article in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 4 citations in OpenAlex.
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- Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.The Journal of clinical endocrinology and metabolism · 2026Article
- Clinicopathological predictors of central lymph node metastasis in clinically node-negative papillary thyroid carcinoma: a retrospective cohort analysis.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants inFrontiers in pediatrics · 2026Article
- Lung cancer in non-smoking women (LCINSW): from risk factors to precision therapy.Cancer metastasis reviews · 2025Review
- Microglia in retinal angiogenesis and diabetic retinopathy.Angiogenesis · 2024Review
- Mini-invasive video-assisted thyroidectomy vs robot-assisted transaxillary thryoidectomy: analisys and comparison of safety and outcomes.Updates in surgery · 2024Observational
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12 authors at 2 institutions in 1 country.
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Abstract
Objective: To analyze the relationship between genotype and phenotype in 21-Hydroxylase deficiency patients harboring P31L variant and the underlying mechanism. Methods: A total of 29 Chinese patients with 21-OHD harboring P31L variant were recruited, and the detailed clinical features of the patients were extracted and analyzed retrospectively. The TA clone combined with sequencing of the region containing the promotor and exon1 of Results: Among the 29 patients diagnosed with 21-OHD harboring P31L variant, the incidence of classical simple virilizing form was 62.1%. Thirteen patients owned promoter variants (1 homozygote and 12 heterozygote) and all exhibited SV form. The promoter variants and the P31L variant were located in the same mutant allele as validated by TA cloning and sequencing. There were statistically significant differences in clinical phenotype and 17-OHP level between the patients with and without promoter region variations ( Conclusion: There exists high incidence (57.4%) of SV form among the 21-OHD patients harboring P31L variant, and the underlying mechanism is partially due to both the promoter variants and P31L aligning in cis on one allele. Further sequencing of promoter region will provide important hints for the explanation of phenotype in patients harboring P31L.
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