Treatment and health outcomes in adults with congenital adrenal hyperplasia

  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},
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… 

Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia.

Gene and cell therapies, are the only therapeutic approaches that could potentially correct both cortisol deficiency and androgen excess and hold promise to avoid excess glucocorticoid replacement in those not controlled on standard or circadian glucoc Cortisone replacement such as Chronocort.

MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.

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.

Glucocorticoid Regimens in the Treatment of Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

There do not appear to be significant differences between hydrocortisone and prednisolone therapy, and the choice of agent should be based on individual patient factors.

Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

  • P. White
  • Medicine, Biology
    Current opinion in endocrinology, diabetes, and obesity
  • 2018
Refinements to screening techniques may improve the positive predictive value of newborn screening programs and alternative dosing forms of hydrocortisone and additional therapeutic modalities are under study.

Primary adrenal insufficiency in children: Diagnosis and management.

  • T. KirkgozT. Guran
  • Medicine, Biology
    Best practice & research. Clinical endocrinology & metabolism
  • 2018

Do All Patients with Congenital Adrenal Hyperplasia Need to Be on Hydrocortisone Three Times a Day in Order to Have Normal Growth?

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.



Clinical outcomes in the management of congenital adrenal hyperplasia

The introduction of neonatal CAH screening may enhance long-term results and monitoring of different risk factors and negative consequences should be done regularly in an attempt to improve clinical outcomes further.

Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

  • D. Merke
  • Medicine, Biology
    The Journal of clinical endocrinology and metabolism
  • 2008
Treatment of CAH, especially in the adult patient, remains controversial given the lack of prospective randomized controlled trials comparing treatment regimens, Nevertheless, patients benefit from careful individualized therapy with avoidance of Cushingoid side effects and optimization of reproductive, sexual, and bone health.

Congenital adrenal hyperplasia

Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults

The aims here are to review the multiple clinical, hormonal and metabolic abnormalities that could be found in adult CAH patients as such a decrease in bone mineral density, overweight and disturbed reproductive functions.

Effects of Adrenal Steroids on the Bone Metabolism of Children with Congenital Adrenal Hyperplasia

  • K. Lin-SuM. New
  • Medicine, Biology
    Annals of the New York Academy of Sciences
  • 2007
It is proposed that the inhibitory effect of corticosteroid therapy on bone formation is counteracted by estrogen's effect on bone resorption through the RANK‐L/osteoprotegerin (OPG) system.

Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Primary and secondary prevention of health problems has to become a task of increasing importance for those involved in the care of CAH patients throughout their life.

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)

Increased adiposity, insulin resistance and use of prednisolone or dexamethasone are associated with impaired QoL in adults with CAH, and intervention trials are required to establish whether choice of glucocorticoid treatment and/or weight loss can improve QOL in CAH adults.

Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia.

Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments, and routine monitoring of classic children should include measuring BP and plasma renin activity.

Outcome of congenital adrenal hyperplasia

The quality of life in women with CAH is studied, with particular emphasis on how they cope with genital malformations, genital operations, and chronic disease as well as lifelong medication, and improved psychosocial adaptation is speculated.

Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients

In the patients studied, glucocorticoid replacement was generally nonphysiological, and androgen levels were poorly controlled, associated with an adverse metabolic profile and impaired fertility and quality of life.