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GlossaryNon-Classical Adrenal Hyperplasia

partial enzyme deficiency causing excess androgen production

Non-Classical Adrenal Hyperplasia (NCAH) is a milder form of congenital adrenal hyperplasia that typically presents later in life, often during adolescence or adulthood. It is caused by a partial deficiency in the enzyme 21-hydroxylase, leading to an overproduction of androgens (male hormones). Symptoms can include irregular menstrual cycles, excessive hair growth (hirsutism), and acne in females, while males may experience early signs of puberty.

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A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia Among Women Presenting with Hyperandrogenic Symptoms and Signs

research A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia Among Women Presenting with Hyperandrogenic Symptoms and Signs

150 citations, November 2007 in “The Journal of Clinical Endocrinology and Metabolism”

About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.

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.

research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy

1 citations, January 2015 in “Case reports in endocrinology”

Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.

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.

research An Update on Congenital Adrenal Hyperplasia

151 citations, December 2004 in “Annals of the New York Academy of Sciences”

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

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