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GlossaryCYP21A2 gene

encodes an enzyme essential for hormone production in adrenal glands

The CYP21A2 gene, also known as the 21-hydroxylase gene, provides instructions for making an enzyme called 21-hydroxylase. This enzyme is crucial for the production of certain hormones in the adrenal glands, including cortisol and aldosterone. Mutations in the CYP21A2 gene can lead to congenital adrenal hyperplasia (CAH), a group of genetic disorders affecting hormone production and leading to symptoms such as abnormal growth and development.

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research The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China

10 citations , March 2021 in “Clinical Cosmetic and Investigational Dermatology”

Certain gene variants are linked to severe acne, especially in males.

Detection of Mutations in the CYP21A2 Gene: Genotype-Phenotype Correlation in Slovenian Couples with Conceiving Problems

research Detection of Mutations in the CYP21A2 Gene: Genotype-Phenotype Correlation in Slovenian Couples with Conceiving Problems

1 citations , December 2015 in “Balkan Journal of Medical Genetics”

Genetic screening can help diagnose and manage infertility in Slovenian couples.

CYP21A2 Mutations in Women with Polycystic Ovary Syndrome

research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome

9 citations , February 2013 in “Hormone and Metabolic Research”

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.

CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

research CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

14 citations , January 2013 in “Hormone and Metabolic Research”

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

EMQN Best Practice Guidelines for Molecular Genetic Testing and Reporting of 21-Hydroxylase Deficiency

research EMQN Best Practice Guidelines for Molecular Genetic Testing and Reporting of 21-Hydroxylase Deficiency

94 citations , July 2020 in “European Journal of Human Genetics”

The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.

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