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Monitoring of Adults with CAH

Glucocorticoids (“steroids”) have only been used to treat CAH for the last 50 years or so. While we have gained considerable knowledge and expertise about the treatment of CAH in children, there is much less information about the treatment adults with CAH. Optimal treatment for the adult continues to challenge the healthcare community. What we do know is: People with CAH have a normal life expectancy, and for most who are well managed and receiving adequate treatment, there is little interference in every day life.

Adults with CAH require life-long follow-up to maintain correct medical care, and it is becoming increasingly clear that adults with CAH benefit from a multidisciplinary approach that includes Endocrinologists, Gynecologists, Urologists, Fertility Specialists and Psychologists. Even when well-controlled, adults with CAH should continue with medical check-ups. For women, endocrine visits should be made two to three times per year. Good management for women brings control of androgen levels and improved fertility. In men, endocrine visits should be at least once per year, and again, good control is essential in maintaining fertility.

Obviously, important long-term health issues affect both men and women with CAH. Earlier studies focused on bone density, but more recently, questions have been raised concerning cardiovascular health and weight management.

While the goal of treatment in childhood and adolescence is maintaining proper growth (along with the appropriate onset of puberty) and optimizing final height, the goals for treating the adult relate more to the consequences of long-term steroid use.

A common strategy being used by many Adult Endocrinologists is to find the minimum effective dose of steroids for maintenance. This is determined by a combination of clinical (physical) and biochemical (blood) evidence. Treatment must be adjusted according to individual needs and goals, as there is no uniform or “perfect” regimen. The patient and physician must take into account the whole picture of physical and chemical evidence.

In contrast to the child with CAH, the adult’s range of acceptable 17-hydroxyprogesterone, androstenedione and testosterone may be higher.

Concerning 17-hydroxyprogesterone, researchers and clinicians have found that complete suppression to “normal” (CAH unaffected) levels results in over-suppression and side-effects of glucocorticoid excess (Cushingoid symptoms). Often, symptoms of over-suppression signal the need for dose adjustment or reduction.

Androstenedione and testosterone concentrations move on a longer time-scale and can indicate longer periods of under or over suppression by glucocorticoids.

Optimal dosing is that which does not fully suppress 17-hydroxyprogesterone to normal/CAH unaffected levels and maintains androgen levels in the mid- to high-normal range.

Mineralcorticoid (Florinef or fludrocortisone) treatment also requires monitoring in the adult. There is some anecdotal evidence that sensitivity to salt loss diminishes with age and that salt-wasting crises are far less common and less precarious in adults. However, optimal treatment suggests that adults should continue mineralcorticoid therapy with careful monitoring of hypertension and renin activity by the Endocrinologist. In both salt-wasters and simple-virilizers, mineralcorticoid treatment may allow for a lower dose of steroids to maintain good control.

Weight Gain in CAH
Weight gain in CAH can be a side effect of steroid treatment, especially for women. Monitoring weight is important to prevent weight gain and avoid harsh weight reducing diets. Careful attention to diet and exercise in conjunction with precisely monitoring treatment should help most adults with CAH avoid obesity. Many adults with CAH find regular sustained exercise of an hour several times per week is essential in keeping weight down and fitness levels up. Exercise also helps with maintaining bone density.

Bone Density in CAH
Osteoporosis is an understandable concern for adults with CAH who are steroid-dependent and have been treated for a long time. It is known that steroid therapy inhibits osteoblastic (bone building) activity which could potentially lead to decreased bone density. This is of particular concern to individuals who were treated with high doses of steroids and whose 17-hydroxyprogesterone levels were consistently kept in low- to mid-normal ranges (signaling oversuppression). If there is evidence of glucocorticoid over treatment, routine bone density measurements are warranted in the young adult. In the absence of over treatment evidence, it is recommended that women over the age of 30 and men over the age of 40 consider annual bone density measurements. Fortunately, medications are now available to stop and reverse bone loss due to glucocorticoid therapy.

Cardiovascular Disease Risk
Those receiving long-term steroid therapy for CAH are only now reaching the age where cardiovascular disease becomes an issue. Theoretically, people with CAH may be at an increased risk due to insulin resistance related to chronic hyperandrogenism. It is thought that increased levels of insulin over a long period of time may confer an increased long-term cardiovascular risk. Additionally, steroid therapy has been linked to dyslipidemia, disruptions in blood lipid (cholesterol) levels. So far, only a few preliminary studies have addressed this health issue and there is much that remains to be discovered.