Adult patients with congenital adrenal hyperplasia poorly managed in UK

Issue: January 2011

Fewer than 10% of adults with congenital adrenal hyperplasia receive care from an endocrinologist, and there is no standard treatment for these patients, researchers in the United Kingdom have found.

“Children with congenital adrenal hyperplasia are managed using established guidelines recommending a multidisciplinary team approach,” the researchers wrote. “No such consensus exists for the management of adults with congenital adrenal hyperplasia [in the United Kingdom]. There is a paucity of data from cohorts of meaningful size, with previous reports focused on relatively small numbers of patients under the care of single treatment centers.”

An estimated 3,591 adults in the United Kingdom have congenital adrenal hyperplasia, yet the researchers only identified 373 patients as being treated by an endocrine specialist.

Findings from CaHASE

The Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) was a prospective, multicenter, cross-sectional study of the 203 patients with congenital adrenal hyperplasia who attended specialized endocrine centers in the United Kingdom. The study was focused on the 199 patients who had 21-hydroxylase deficiency. The group consisted of 134 women with a median age of 34 years, and 65 men with a median age of 32 years. The researchers conducted a physical examination, biochemical assessment and psychometric evaluation.

“The fact that people with congenital adrenal hyperplasia are now surviving through adulthood is wonderful, but we are now faced with a new problem: How are we best able to support patients with this lifelong condition which requires long-term steroid therapy?” Richard Ross, PhD, chairman of CaHASE, said in press release.

According to the results, glucocorticoid treatments for the patient population varied; 43% of patients received prednisolone, 26% received hydrocortisone, 19% received dexamethasone and 10% received a combination. The doses of the treatments and androgen control were variable; only 36% of patients had normal serum androstenedione, but 38% had suppressed levels that suggested glucocorticoid overtreatment.

The researchers compared the patients with participants of the Health Survey for England and found that patients with congenital adrenal hyperplasia were significantly shorter. Patients also had a higher BMI (32.9 vs. 26.7) and greater waist circumference (99.5 cm vs. 85.9 cm; P<.0001 for both). Obesity, hypercholesterolemia, insulin resistance, osteopenia and osteoporosis were more common in patients with congenital adrenal hyperplasia. The subjective health was also impaired, as was fertility.

Focus on adult care

Based on the poor health status and lack of consensus on management, the researchers recommended that all congenital adrenal hyperplasia patients be referred to a specialist clinic for treatment by a multidisciplinary team to ensure the proper provision of care to these patients.

“We must remedy this if we are to treat the condition in adulthood as well as we do in childhood. In particular, we have shown that the current use of synthetic glucocorticoids to treat adults with congenital adrenal hyperplasia is inconsistent across centers and not supported by sufficient evidence, making this an important item on the research agenda,” Ross said in the release. – by Emily Shafer

For more information:

Arlt W. J Clin Endocrinol Metab. 2010;95:5110-5121.

Dr. Ross is a founding director and equity holder in Diurnal Ltd. which is developing new hydrocortisone preparations for patiens with congenital adrenal hyperplasia.

This study shows that a lot of people are lost to follow-up after the pediatric period. As a pediatric endocrinologist, this is concerning. The patients in this study were not well-controlled, and perhaps because of this, they were not doing so well and had a poor quality of life. I am somewhat distressed that we pediatricians have not done a perfect job in making sure that our patients are adequately followed when they leave our care.

In the United States, we do not even have a general idea of the number of adult patients with congenital adrenal hyperplasia being treated for their disease. I would say that if the situation is this dire in the United Kingdom, where people are universally insured, it is not going to be any better in the United States, where many patients do not even have health insurance.

We need to be proactive and make sure that this is not the case for the future. All of the medical providers who tend to interact with these patients have a responsibility to reach out to them and make sure they are getting adequate primary care, as well as specialist care.

My advice for endocrinologists, especially pediatric endocrinologists, is to try to maintain a relationship with adult endocrinologists in their vicinity who are experienced and capable of taking care of these patients. Make contact with them before the patients leave the care of the pediatrician, about age 18 years, and share records — with the patient’s permission. Have the patient acknowledge that they will make every effort to follow through with good medical care with adult endocrinologists and with reproductive endocrinologists and gynecologists, as needed.

– Phyllis W. Speiser, MD
Director of Pediatric Endocrinology, Cohen Children’s Medical Center,
North Shore-Long Island Jewish Health System

Dr. Speiser has no direct financial interest in any of the products mentioned in this article nor is she a paid consultant for any companies mentioned.

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