Abstract

Congenital adrenal hyperplasia has traditionally been treated with daily oral doses of glucocorticoids and mineralocorticoid supplements. Such therapy does not precisely replicate the adrenal cortex's circadian pattern. As a consequence, patients are intermittently overtreated or undertreated leading to growth suppression in children, excess weight gain and altered metabolism. Several new treatments are on the horizon. This article will summarize some new potential therapies as adjuncts to, or replacement for, standard therapy.

Highlights

  • Congenital adrenal hyperplasia (CAH) is caused by one of several inherited enzyme deficiencies

  • Allelic variation accounts for most phenotypic differences

  • Cardinal features of classic CAH include atypical development of the external genitalia in girls with manifest virilization. Both males and females have salt wasting with failure to thrive and potentially fatal hypovolemia and shock

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Summary

Introduction

Congenital adrenal hyperplasia (CAH) is caused by one of several inherited enzyme deficiencies. A proof-of-concept trial demonstrated that co-administration of growth hormone plus an aromatase inhibitor (again, alongside standard steroid replacement) improved adult height in a single adolescent male patient with CAH20. Since normal adult height may be achieved through judicious use of standard GC and MC therapies, further long-term prospective randomized and carefully controlled studies are needed to determine whether the use of growth-promoting drugs is safe and cost-effective in individuals with CAH. At present, such treatments are not considered standard care in children with CAH. Grant information The author declared that no grants were involved in supporting this work

Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal
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