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.
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.
117 citations,
May 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.
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.
42 citations,
April 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.
35 citations,
May 2012 in “Cochrane Database of Systematic Reviews” Minoxidil effectively treats female pattern hair loss.
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.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
117 citations,
May 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.
4 citations,
December 2022 in “Frontiers in Endocrinology” Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
