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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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First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy

research First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy

October 2007 in “Clinical Biochemistry”

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH

research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH

October 2024 in “Journal of the Endocrine Society”

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker

research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A33:01; B14:02; C*08:02 as a Genetic Marker

7 citations , January 2019 in “Australasian Journal of Dermatology”

A genetic marker linked to a type of hair loss was found in most patients studied.

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.

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