Approach to the Patient: The Adult with Congenital Adrenal Hyperplasia

The most common form of congenital adrenal hyperplasia is steroid 21-hydroxylase deficiency (21OHD). When the nonclassical (mild) form is included, 21OHD is the most common genetic disease in human beings. With the advent of pharmaceutical preparation of glucocorticoids starting in the 1960s and newborn screening starting in the 1990s, the majority of children with 21OHD are reaching adulthood, which has yielded a cohort of patients with, in essence, a new disease. Only recently have some data emerged from cohorts of adults with 21OHD, and in some centers, experience with the management of these patients is growing. These patients suffer from poor health, infertility, characteristic tumors in the adrenal glands and gonads, and consequences of chronic glucocorticoid therapy. Their care is fragmented and inconsistent, and many stop taking their medications out of frustration. Internal medicine residents and endocrinology fellows receive little training in their care, which further discourages their seeking medical attention. Adults with 21OHD have a different physiology from patients with Addison's disease or other androgen excess states, and their needs are different than those of young children with 21OHD. Consequently, their care requires unorthodox treatment and monitoring strategies foreign to most endocrine practitioners. Our goal for this article is to review their physiology, complications, and needs in order to develop rational and effective treatment and monitoring strategies.

Learning Objectives

Upon completion of this educational activity, participants shouldbe able to:

  • Interpret laboratory data for men and women with CAH and determine if their control is at goal
  • Explain the molecular genetics of classical and nonclassical CAH and provide genetic counseling to these patients and family members
  • Adjust therapy regimens for men and women with CAH appropriate for their treatment goals
  • Recognize when treatments other than glucocorticoids are appropriate

Additional Information

Target Audience: 
Clinical researcher
Scientific researcher
Nurse/Nurse practitioner
Physician assistant
Allied health professional
Competency Area: 
Patient Care and Procedural Skills
Medical Knowledge
Topic Area: 
Adrenal/HPA Axis
General Endocrinology
Level of Outcomes: 
Level 1 (Participation)
Level 2 (Satisfaction)
Level 3A (Learning: Declarative Knowledge (Knows))
Level 3B (Learning: Procedural Knowledge (Knows How))
Level 4 (Learning: Competence (Shows How))
Activity summary
Available credit: 
  • 1.00 AMA PRA Category 1 Credits
  • 1.00 CME Certificate of Participation
Course opens: 
Course expires: 

Disclosure Policy

Authors, editors, and Endocrine Society staff involved in planning this JCEM Journal-based CME activity are required to disclose to The Endocrine Society and to learners any relevantfinancial relationship(s) of the individual or spouse/partner that have occurred within the last12 months with any commercial interest(s) whose products orservices are discussed in the CME content. The Endocrine Societyhas reviewed all disclosures and resolved all identifiedconflicts of interest.

The following author reported no relevant financial relationships:

Wiebke Arlt, M.D., has no relevant financial relationships.

The following author reported relevant financial relationships:

Richard J. Auchus, M.D., Ph.D., provided contracted research for Janssen Pharmaceuticals.

The following JCEM Editors reported relevant financial relationships:

The Editor-in-Chief, Leonard Wartofsky, M.D., is a Consultant for Asurogen, Genzyme, and IBSA, and is on the Speaker's Bureau for Genzyme. Kenneth Burman, M.D., is a Consultant for Medscape and UpToDate; a Reviewer for the Endocrine Fellows Foundation; and has received Institutional Grants for Research from Amgen, Eisei, and Pfizer. Samuel Dagogo-Jack, M.D., is a Consultant for Merck and Novo Nordisk; a Grantee for the American Diabetes Association, AstraZeneca, Boehringer Ingelheim, National Institutes of Health, and Novo Nordisk; and a Grant Reviewer for the American Diabetes Association and National Institutes of Health. Silvio Inzucchi, M.D., is a Consultant/Advisor for Boehringer Ingelheim, Genentech, Janssen, Merck, and Takeda; has DSMB Activity with Amgen, Esai, and Gilead; and receives CME support from Abbott, Amylin, Boeringher-Ingelheim, Merck, and Takeda. Kieren Mather, M.D., received an Investigator-initiated Grant from Novo Nordisk. Lynnette Nieman, M.D., is an Author/Editor for UpToDate, and receives Research Support from HRA-Pharmaceutical.

The following JCEM Editors reported no relevant financial relationships: Paolo Beck-Peccoz, M.D.; David Ehrmann, M.D.; David Handelsman, Ph.D.; Michael Kleerekoper, M.D.; Merrily Poth, M.D.; Constantine Stratakis, M.D.

Endocrine Society staff associated with the development of contentfor this activity reported no relevant financial relationships.

Acknowledgement of Commercial Support

JCEM Journal-based CME activities are not supported by grants, other funds, or in-kindcontributions from commercial supporters.

Available Credit

  • 1.00 AMA PRA Category 1 Credits
  • 1.00 CME Certificate of Participation