Jump to: Authorized Access | Attribution | Authorized Requests

Study Description

21-hydroxylase deficiency (21-OHD) is an inherited disorder that results from a mutation on the CYP21A2 gene. It affects the adrenal glands and is the most common cause of congenital adrenal hyperplasia (CAH). 21-OHD CAH causes the body to produce an insufficient amount of cortisol and an excess of androgen, the type of hormone that produces male characteristics. The primary treatment for 21-OHD CAH, glucocorticoid replacement therapy, has been shown to cause bone loss. However, the elevated hormone levels caused by 21-OHD CAH may increase production of the protein osteoprotegerin (OPG), which in turn may protect against bone loss. This study will compare bone density and OPG levels in women who have 21-OHD CAH and have undergone a lifetime of glucocorticoid replacement therapy to that in women who have neither of these criteria. In doing so, the study will aim to determine the relationship between OPG and bone loss.

Because of the excess of androgen caused by 21-OHD CAH, women with CAH may exhibit some male-like characteristics. Glucocorticoids are a member of a class of drugs called corticosteroids, which are used in hormone replacement therapy. In order to counteract the effects of 21-OHD CAH, women with the disease are given hormone replacement therapy with glucocorticoids beginning at infancy. Glucocorticoids are known to cause bone loss. Despite many years of treatment with glucocorticoids, however, young women with 21-OHD CAH seem to be protected against bone loss. Researchers believe that the increased androgen levels in these women lead to increased estrogen levels, which in turn increase OPG production. The increase in OPG levels may protect women against bone loss. This study will evaluate bone density and OPG levels in women with and without 21-OHD CAH to determine the relationship between OPG and bone loss.

Participants in this observational study will attend only one study visit. At this visit, they will undergo a blood draw; a scan of their lower spine, hip, and forearm; height and weight measurements; and a body fat analysis test. This last test will entail a weak and painless electrical signal being sent from foot to foot. Participants will not attend any follow-up visits for this study.

Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

Inclusion Criteria:

For People with 21-OHD:

  • 21OHD documented by molecular genetic analysis (mutations in CYP21A2 gene on both parental alleles)
  • Treatment with glucocorticoid replacement since infancy (begun within the first year of life)
  • Available hormonal data and treatment details over the 5 years prior to study entry
  • Premenopausal
  • Female
  • Ages 20-35 years

For Healthy Controls:

  • No diagnosis of 21-OHD CAH, as confirmed by molecular genetic analysis
  • No first degree relative is enrolled as a 21-OHD CAH participant
  • Premenopausal
  • Female
  • Ages 20-35 years

Exclusion Criteria:

  • Medical disorder or treatment with medications known to affect bone density (other than glucocorticoids for 21-OHD CAH patients), including, but not limited to growth hormone, IGF-I, depo-medroxyprogesterone acetate, biphosphonates, oral contraceptives, androgens, thyroxine, or aromatase inhibitors
  • Pregnant
  • Any smoking within the 6 months prior to study entry
  • Cardiac pacemaker or other implanted electronic medical device

Study History

Study History

♦ Study Start Date: April 2008
♦ First Accrual: May 12, 2008
♦ Study Completion Date: July 2009

Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution
  • Study Chairs
    • Karen Lin Su, MD. Mount Sinai School of Medicine, New York, NY, USA.
  • Data Coordinating Center
    • Jeffrey Krischer, PhD. Data Management and Coordinating Center University of South Florida, FL, USA.
  • Funding Sources
    • National Institutes of Health (NIH)- RDCRN Pilot Project Grant, Bethesda, MD, USA.