Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women

May 2017 in “ Human Reproduction Update ”

Enrico Carmina, Didier Dewailly, Héctor F. Escobar-Morreale, Fahrettin Keleştimur, Carlos Morán, Sharon E. Oberfield, Selma F. Witchel, Ricardo Azziz

TLDR The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.

The document reviewed non-classic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency, particularly in adolescent and adult women. It reported a 4.2% prevalence of NCAH among women with androgen excess and detailed symptoms that can occur from infancy to adulthood, such as accelerated growth and PCOS-like features. Diagnosis is typically made with serum 17-hydroxyprogesterone levels, with >2 ng/ml for screening and >10 ng/ml for a definitive diagnosis. Genetic analysis of CYP21A2 is recommended for confirmation. Treatment options include glucocorticoids for pediatric growth issues and fertility in adult women, and oral contraceptives and/or anti-androgens for menstrual and hirsutism control. Women with NCAH have a higher miscarriage risk, which may be mitigated by glucocorticoids during pregnancy. The document also noted the increased risk of metabolic and cardiovascular issues in adult NCAH patients and the importance of prompt diagnosis and treatment to improve fertility outcomes. Diagnosis relies on serum 17-OHP concentrations, and treatment varies by age and symptoms, with glucocorticoids being a common therapy. The document also mentioned a study with 28 patients where CPA combined with ethinylestradiol was more effective than dexamethasone for hirsutism. It emphasized the need for evidence-based management and genetic counseling for NCAH and highlighted future diagnostic and treatment prospects, including the use of LC/MS assays for more accurate 17-OHP measurement.

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Research cited in this study

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The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis

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Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.

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Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.

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

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

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

Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.

Assessment of Cardiovascular Risk and Prevention of Cardiovascular Disease in Women with Polycystic Ovary Syndrome: A Consensus Statement by the Androgen Excess and Polycystic Ovary Syndrome Society

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Women with PCOS should be screened for heart disease risk and manage their health to prevent it.

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research Nonclassic Congenital Adrenal Hyperplasia

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NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.

research The Androgen Excess and PCOS Society Criteria for the Polycystic Ovary Syndrome: The Complete Task Force Report

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The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.

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

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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.

Criteria for Defining Polycystic Ovary Syndrome as a Predominantly Hyperandrogenic Syndrome: An Androgen Excess Society Guideline

research Criteria for Defining Polycystic Ovary Syndrome as a Predominantly Hyperandrogenic Syndrome: An Androgen Excess Society Guideline

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Polycystic Ovary Syndrome should be seen mainly as a condition of excess male hormones, with a focus on this in its definition.

research Relative Prevalence of Different Androgen Excess Disorders in 950 Women Referred Because of Clinical Hyperandrogenism

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Most women referred for excess male hormone symptoms had polycystic ovary syndrome (PCOS), with other conditions being less common.

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

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

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