ID
45725
Description
Principal Investigator: MeSH: Steroid 21-Hydroxylase https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001314 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.
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Versions (1)
- 5/25/23 5/25/23 - Chiara Middel
Copyright Holder
Karen Lin Su, MD. Mount Sinai School of Medicine, New York, NY, USA
Uploaded on
May 25, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs001314 OPG in CAH
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with or without 21-Hydroxylase deficiency and involved in the "Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients with 21-Hydroxylase Deficiency" project.
- registration: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
- demographics: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
- eligibilityform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
- intakeform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with or without 21-Hydroxylase deficiency and involved in the "Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients with 21-Hydroxylase Deficiency" project.
- registration: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
- demographics: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
- eligibilityform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
- intakeform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
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