Continuous Treatment for Men with CAH - CARES Foundation, Inc.

Winter 2006 CARES Foundation, Inc.

Back to Winter 2006 Index	Home

Continuous Treatment for Men with CAH

Erin Anthony


Historically, the focus of CAH research and treatment advancement has generally centered on women, as symptoms such as genital virilization and infertility were thought to be more problematic. While continuous treatment for women with classical CAH has never been questioned, there has been some debate as to whether men who are not salt wasting require lifelong treatment. However, researchers are now saying there is no question men with classical CAH should receive continuous treatment and are indicating that what we once thought were “women’s issues” are troublesome for men as well. Transition to Adult Care Perhaps the most fundamental reason for poor treatment for men and women with CAH is a lack of adult CAH specialists. In the US, patients found to have CAH are usually followed by a pediatric endocrinologist until the time of transition, around 18 years of age. Unfortunately, patients are often left to find their own doctor. Many end up seeing an internist unfamiliar with the condition or forego treatment altogether. In a recent article in the journal Hormone Research¹, German researchers Mönig and Sippell propose special considerations for the time of transition. The researchers recommend the patient be transferred during the course of an extensive consultation with the new physician, with special attention paid to a few major problems: adrenal crisis, impaired gonadal function, and adrenal tumors. Adrenal Crisis Adrenal insufficiency and adrenal crisis are obvious problems for all CAH patients, but, according to Mönig and Sippell, there are no reports in the literature on the frequency of adrenal crises in adult CAH patients. That said, the basic biochemical defect of CAH, insufficient cortisol production by the adrenal glands, is a lifelong condition. According to the authors, there is no reason to believe that the adrenals will begin to function in adulthood even though steroid replacement requirements may change. A 2004 article in Experimental and Clinical Endocrinology & Diabetes², to which Mönig and Sippell contributed, indicates a possible decrease in dosage for adults. The reasoning for the change is that, with adulthood, the goal of treatment shifts from optimizing growth and preventing virilization to preservation of fertility and good general well being and physical performance. However, the authors are also careful to highlight the need to repeatedly inform adult patients about the symptoms of adrenal insufficiency and the need to increase steroid doses in cases of physical stress. Impaired Gonadal Function Although it has long been expected that persistent increase of adrenal androgens results in small testes and impaired spermatogenesis, normal testicular function has been described in untreated CAH patients, Mönig and Sippell said. However, this should not be the only reason for infertility concerns in men with CAH. Fertility may be further compromised by testicular adrenal rest tumors, caused by undersuppression of ACTH, the authors said. Continuous treatment, according to the authors, is necessary to prevent both occurrences and preserve normal fertility. Another complication the authors cite is development of testicular hypertrophy, frequently encountered in classical CAH. This condition, which may at first be visible only on ultrasound but can grow into palpable masses more than 10cm in diameter, is usually due to insufficient steroid treatment. It is important to note that while these lesions are not harmful in themselves and do not necessarily preclude fertility, they may, as the authors note, impair spermatogenesis and Leydig cell function (testosterone production). Another problem arises when a CAH patient sees a urologist unfamiliar with the condition, the authors said. While the tumors are of a hard consistency and resemble malignancy, they are usually benign and reversible if steroid therapy is optimized. It can also be very difficult, the authors said, to distinguish between Leydig cell tumors and adrenocortical rest hyperplasia—putting patients at a high risk for unnecessary removal of the testicles. Adrenal Masses CAH may also be associated with increased incidence of adrenal tumors, Mönig and Sippell said. While most adrenal masses in patients with CAH are benign, a mass over 5cm in diameter requires surgical removal. This makes the prevention of such tumors another argument for continuous treatment of male patients with classical CAH. Osteoporosis Osteoporosis is typically thought of as another “women’s issue,” but men with CAH should also take note. According to the 2003 article referenced before, bone loss is one of the major complications of steroid treatment in pharmacological doses. At risk are patients who were obviously over-treated for years. Summary CAH is a disorder affecting both sexes equally. However, because the symptoms of androgen excess appear to be more of a problem for women, men have not received the attention they deserve. The article by Mönig and Sippell emphasizes the fact that men with classical CAH need to receive continuous treatment and should be aware of problems surrounding adrenal crisis, impaired gonadal function and adrenal tumors. It also highlights the need for better education of internists, adult endocrinologist and urologists concerning treatment of adults with CAH. Integral for good adult care is smooth and conscientious transition from pediatric to adult care. Issues for Men with Classical CAH: Transition to Adult Care Adrenal Crisis Adjustment of Dosage Impaired Gonadal Function Adrenal Tumors Osteoporosis
References: ¹Mönig, Heiner and Wolfgang Sippell, “Congenital Adrenal Hyperplasia in Adulthood: Do Men Need to Continue Treatment?” Hormone Research 2005; 64 (suppl 2):71-73. ²Kruse, B. et al. “Congenital Adrenal Hyperplasia—How to Improve the Transition for Adolescence to Adult Life,” Experimental and Clinical Endocrinology & Diabetes 2004; 112: 343-355.

Back to Winter 2006 Index	Top	Home


© 2006 CARES Foundation, Inc. All rights reserved. Republication or redistribution of CARES content, including by framing or similar means, is prohibited without the prior written consent of CARES.