ArticleBMC endocrine disorders2020
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Article in BMC endocrine disorders, 2020. 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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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Identification of a Homozygous Variant in theGenes · 2025Article
- Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.Journal of the Endocrine Society · 2025Review
- Cardiovascular risk in Cuban adolescents and young adults with congenital adrenal hyperplasia.BMC endocrine disorders · 2023Article
- Long-Term Outcomes of Congenital Adrenal Hyperplasia.Endocrinology and metabolism (Seoul, Korea) · 2022Review
- Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center.Hormones (Athens, Greece) · 2022Article
- Compendium of causative genes and their encoded proteins for common monogenic disorders.Protein science : a publication of the Protein Society · 2022Article
- Congenital adrenal hyperplasia is a very rare cause of adrenal incidentalomas in Sweden.Frontiers in endocrinology · 2022Article
- Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association.Case reports in pediatrics · 2021Article
- Article
- Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.Indian journal of endocrinology and metabolismReview
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive group of diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH cases.
objectivesTo characterize the genotype of patients clinically diagnosed with 21OHD and to identify the most frequent mutations in the Cuban population.
methodsCross-sectional descriptive study that included all patients diagnosed with 21OHD from January 2000 to December 2018. For the molecular analysis of the CYP21A2 gene, a protocol was used that used the polymerase chain reaction in 2 stages; in the first stage genomic DNA was amplified and 5 point mutations were detected in the second stage (Intron 2, Deletion of 8 bp, G318X, I172N and P30L).
resultsThe 5 point mutations were identified in 31 of the 55 (56%) studied patients, 16/21 (76%) in the salt-wasting, 12/18 (67%) in the simple virilizing and 3/16 (19%) in the nonclassical form. The Intron 2 mutation was the most frequent, followed by G318X and 8 bp deletion. Compound heterozygotes were found in 10 patients, all corresponded to classic forms of the disease.
conclusionsThe causal CYP21A2 gene mutation was detected in 56% (72% in classic CAH), which makes the method encouraging. The most frequent mutations observed were Intron 2 and G318X. The detection of mutations offers confirmation of diagnosis, prediction of phenotype and genetic counseling.
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