Treatment and health outcomes in adults with congenital adrenal hyperplasia

@article{Han2014TreatmentAH,
  title={Treatment and health outcomes in adults with congenital adrenal hyperplasia},
  author={Thang Sieu Han and Brian R. Walker and Wiebke Arlt and Richard J Ross},
  journal={Nature Reviews Endocrinology},
  year={2014},
  volume={10},
  pages={115-124}
}
Congenital adrenal hyperplasia (CAH) is a genetic disorder caused by defective steroidogenesis that results in glucocorticoid deficiency; the most common underlying mutation is in the gene that encodes 21-hydroxylase. Life-saving glucocorticoid treatment was introduced in the 1950s, and the number of adult patients is now growing; however, no consensus has been reached on the management of CAH beyond childhood. Adult patients are prescribed a variety of glucocorticoids, including hydrocortisone… 

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The present overview focuses on studies dealing with cardiovascular risk, fertility, treatment and prenatal management in adults with classic CAH to provide the reader with an updated review on this rapidly evolving field of knowledge.

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A range of glucocorticoid treatment regimens may be equally viable in children with CAH, and growth parameters and other indices of disease control were equivalent between patients on conventional HC dosing and other therapeutic approaches.

Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Individuals with CAH demonstrate a high prevalence of cardiovascular and metabolic risk factors and long-term prospective studies are warranted to assess strategies for reducing cardiovascular risk in individuals withCAH.

Assisted Reproduction in Congenital Adrenal Hyperplasia

This work focuses on the non-classic type of CAH, usually asymptomatic before the 5th year of age, diagnosed during puberty especially in patients visiting a fertility clinic, which is characterized mainly by anovulatory cycles and/or high androgen concentrations.

Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study

Despite lack of consensus on many aspects of CAH management, panelists agreed on the need for new treatments for classic CAH and the importance of many disease- and GC-related complications, which are difficult to manage with currently available treatments.

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia

Although the study failed its primary outcome at 6 months, there was evidence of better biochemical control on MR-HC, with reduced steroid dose over time and patient-reported benefit.
...

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