Nonclassic Congenital Adrenal Hyperplasia and the Heterozygote Carrier

April 2013 in “ Expert Review of Endocrinology & Metabolism ”

Sara Ahmadi, Saadia Alvi, Randall J. Urban

nonclassic congenital adrenal hyperplasia NCCAH 21-hydroxylase deficiency polycystic ovarian syndrome PCOS CYP21 mutations hirsutism 17-OHP ACTH-stimulated cortisol 21-deoxycortisol hydrocortisone hyperandrogenism CYP21 ACTH

Studysummary This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.

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Research cited in this study

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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 Evaluation and Treatment of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline

502 citations , February 2008 in “The Journal of Clinical Endocrinology & Metabolism”

This review discusses hirsutism management guidelines, recommending androgen testing only for women with abnormal hirsutism scores and advocating for combined therapy approaches depending on severity and underlying conditions, but it reports no new clinical results.

research Antiandrogens for the Treatment of Hirsutism: A Systematic Review and Meta-Analyses of Randomized Controlled Trials

150 citations , February 2008 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

This study suggests that antiandrogens may slightly reduce hirsutism severity compared to placebo, but evidence is weak and their relative efficacy remains uncertain.

research Relative Safety and Efficacy of Finasteride for Treatment of Hirsutism

29 citations , April 2004 in “Annals of Pharmacotherapy”

This review concluded that finasteride may reduce hirsutism scores and hair diameter in women with hyperandrogenism, but concerns about teratogenicity and long-term safety make it a secondary treatment option.

research Androgen Excess in Women: Experience with Over 1000 Consecutive Patients

947 citations , February 2004 in “The Journal of Clinical Endocrinology and Metabolism”

In this study, polycystic ovary syndrome was the most prevalent cause of androgen excess, and suppressive hormonal therapy improved hirsutism, menstrual dysfunction, and acne in most patients, though side effects were common.

research American Association of Clinical Endocrinologists Medical Guidelines for Clinical Practice for the Diagnosis and Treatment of Hyperandrogenic Disorders

89 citations , March 2001 in “Endocrine practice”

This article provides diagnosis and treatment guidelines for hyperandrogenic disorders in women but reports no new clinical results; it offers a summary of accepted scientific information and suggestions for clinical practice.

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.

Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

19 citations , August 1999 in “European journal of endocrinology”

This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.