Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management

June 2012 in “ Current Opinion in Endocrinology, Diabetes and Obesity ”

Selma F. Witchel

nonclassic congenital adrenal hyperplasia androgen excess 21-hydroxylase deficiency elevated progesterone oligospermia testicular adrenal rest tumors steroidogenic pathway

Studysummary This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

The document reviews nonclassic congenital adrenal hyperplasia (NCAH), a common autosomal recessive disorder characterized by androgen excess due to 21-hydroxylase deficiency, with varying prevalence. It discusses the pathophysiology, genetics, and management of NCAH, noting subfertility and elevated progesterone in women, and oligospermia and testicular adrenal rest tumors in men. Treatment should focus on symptoms, not just hormone levels, and be individualized, with phenotype generally correlating with genotype. The review also addresses the phenotypic spectrum of defects in other steroidogenic pathway components and emphasizes the importance of individualized treatment plans.

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6 / 6 results

research Recommendations for Treatment of Nonclassic Congenital Adrenal Hyperplasia: An Update

56 citations , December 2011 in “Steroids”

This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.

research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management

100 citations , May 2011 in “Journal of Pediatric and Adolescent Gynecology”

This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.

research Phenotypic Profiling of Parents With Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families

62 citations , March 2011 in “European journal of endocrinology”

This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.

research Nonclassic Congenital Adrenal Hyperplasia

59 citations , January 2010 in “International Journal of Pediatric Endocrinology”

This review discusses the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and provides no new clinical results.

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”

This study determined that nonclassical congenital adrenal hyperplasia has a 2.2% prevalence among hyperandrogenic women in Spain, with basal serum 17-hydroxyprogesterone showing excellent diagnostic performance.

research Screening for 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia Among Hyperandrogenic Women: A Prospective Study

216 citations , November 1999 in “Fertility and Sterility”

This study found that a basal 17-hydroxyprogesterone level is effective for screening nonclassic adrenal hyperplasia in women, with a 4 ng/mL cutoff providing high specificity and positive predictive value.