January 31, 2017
2 min read

New therapeutic approaches needed in managing congenital adrenal hyperplasia

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New therapies are needed to better address the comorbidities associated with congenital adrenal hyperplasia, whereas glucocorticoid treatment in pregnant women with the condition remains a matter of debate, according to an overview published in the European Journal of Endocrinology.

“[Congenital adrenal hyperplasia] is a long-term, benign, chronic disease, which may have metabolic, cardiovascular and reproductive consequences in both females and males, justifying an appropriate therapeutic approach,” Philippe Touraine, MD, PhD, head of the department of endocrinology and reproductive medicine at Hôpital Pitié Salpêtrière in Paris, told Endocrine Today. “Since this is a genetic disease, the question of performing a prenatal diagnosis might be discussed in particular cases, opening the debate about the pros and the cons of glucocorticoid treatment during pregnancy.”

Philippe Touraine

Touraine and colleagues analyzed findings published on congenital adrenal hyperplasia (CAH) in adults or prenatal management of CAH in the past 5 years, focusing on CV risk, fertility, treatment and prenatal management. The researchers noted that CAH is associated with many CV risk factors and possibly excess CV and metabolic morbidity. Regular follow-up is needed, they wrote, along with lifestyle interventions to limit the onset of weight gain and obesity and screenings for diabetes and other metabolic disorders.

Fertility in women with classic CAH is reduced, particularly for patients with the salt-wasting form of the disease, the researchers wrote. Improved fertility and fecundity in women with CAH will depend on surgical advances in genital reconstruction, earlier treatment, compliance with therapy, and an organization of transition from pediatric to adult care, among other factors.

“Long-term management, from childhood to adulthood, is needed,” Touraine said. “During childhood, the main objectives are to control growth velocity and the onset of puberty. During the transition period, an appropriate transition program will improve quality of life and metabolic parameters in those patients.”

An appropriate therapeutic equilibrium remains the most important goal, Touraine said, to correct ovulation in women and potentially avoid the development of testicular adrenal rest tumors in men. Regular hormonal control is necessary, he added.

New glucocorticoid therapies are under development, the researchers noted, including a dual-release hydrocortisone (Plenadren, ViroPharma-Shire), and a modified-release hydrocortisone (Chronocort, Diurnal). Non-glucocorticoid approaches, including androgen biosynthesis inhibitors and adrenocorticotropic hormone and corticotrophin-releasing hormone receptor antagonists, are currently being investigated, they wrote.

Prenatal dexamethasone therapy continues to be a “subject of debate,” the researchers wrote, as rare adverse events have been reported in treated children and concerns have been raised regarding effects of the therapy on fetal brain development.

“It is certain that [dexamethasone] safety in children treated in utero remains controversial and needs to be better assessed,” the researchers wrote. “However, the review of the literature shows an overall efficacy of prenatal [dexamethasone].”

Touraine said patient education about the risks of the disease and the long-term use of glucocorticoids as a treatment for the disease is necessary. by Regina Schaffer

Disclosure: The researchers report no relevant financial disclosures.