Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management

May 2021 in “ Endocrine Reviews ”

Hedi L Claahsen-van der Grinten, Phyllis Speiser, S Faisal Ahmed, Wiebke Arlt, Richard J. Auchus, Henrik Falhammar, Christa E. Flück, Leonardo Guasti, Angela Huebner, Barbara Kortmann, Nils Krone, Deborah P. Merke, Walter L. Miller, Anna Nordenström, Nicole Reisch, David E. Sandberg, Nike M. M. L. Stikkelbroeck, P. Touraine, Agustini Utari, Stefan A. Wudy, Perrin C. White

Congenital Adrenal Hyperplasia 21-hydroxylase deficiency CYP21A2 gene mutations LC-MS/MS genotyping genetic therapies cell-based therapies neonatal screening cardiovascular morbidities metabolic morbidities CAH liquid chromatography-mass spectrometry gene testing

TLDR Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

The 2021 review on Congenital Adrenal Hyperplasia (CAH) provided comprehensive insights into the disorder's pathophysiology, particularly focusing on 21-hydroxylase deficiency due to CYP21A2 gene mutations. It highlighted advancements in diagnostics, such as LC-MS/MS and genotyping, and discussed ongoing clinical trials for alternative treatments, including genetic and cell-based therapies. The review emphasized the importance of early diagnosis through neonatal screening, which significantly improved outcomes, and the need for individualized treatment plans to manage symptoms and prevent complications. It also addressed the psychological and social impacts, fertility issues, and the necessity for a multidisciplinary approach to care, especially during the transition from pediatric to adult healthcare. Despite these advancements, the review noted that medical care for CAH remained suboptimal, with increased risks of cardiovascular and metabolic morbidities.

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research Management of the Female With Non-Classical Congenital Adrenal Hyperplasia: A Patient-Oriented Approach

30 citations , June 2019 in “Frontiers in Endocrinology”

The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.

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

117 citations , June 2017 in “Human Reproduction Update”

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.

research Interventions for Female Pattern Hair Loss

35 citations , May 2016 in “Cochrane Database of Systematic Reviews”

Minoxidil effectively treats female pattern hair loss.

research Interventions for Hirsutism (Excluding Laser and Photoepilation Therapy Alone)

33 citations , April 2015 in “Cochrane library”

Some medicines can reduce excessive hair growth in women, but more research is needed to compare treatments and consider side effects.

research Non-Classic Congenital Adrenal Hyperplasia

42 citations , August 2013 in “Steroids”

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.

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

62 citations , June 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.