Examining Genetic Differences Among People With 21-Hydroxylase Deficiency
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ClinicalTrials.gov Identifier: NCT00542841 |
Recruitment Status :
Completed
First Posted : October 12, 2007
Last Update Posted : December 14, 2015
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Condition or disease | Intervention/treatment | Phase |
---|---|---|
21-hydroxylase Deficiency | Procedure: Hydrocortisone withdrawal | Not Applicable |
CAH is a genetic steroidogenesis disorder. The most common form, 21OHD, leads to cortisol deficiency and, in turn, an excess of androgen, a hormone that promotes the development and maintenance of male sex characteristics. As a result of this androgen excess, prepubescent males and newborn, prepubescent, and grown females exhibit mature masculine characteristics. The symptoms and severity of 21OHD vary among individuals with the disease and in adults versus children. The reasons for these differences are not yet known. Current therapy for 21OHD consists of administration of glucocorticoids to replace cortisol and suppress excessive pituitary function. With more information about what genes or factors contribute to the severity of 21OHD, researchers may be able to better treat children and adults with the disease. This study will examine participants' DNA to determine what other genes may affect the severity of 21OHD and may make the disease milder in adults than in children.
People interested in participating in this 3-day inpatient study will first undergo a physical exam and provide a blood sample to determine eligibility. Eligible participants will be admitted to the study site in the morning on the first study day. A blood sample will be taken and participants will receive one 10-mg pill of hydrocortisone. Heart rates and blood pressures will be taken every 4 hours throughout the day. In the morning of Day 2, a blood sample will be taken and participants will be asked to urinate in the toilet. After this point and until the end of the study, participants will collect all urine in a jug. On the morning of Day 3, participants will complete urine collection and a blood sample will be taken. Participants will then receive intravenously a medicine called cosyntropin, a synthetic form of a hormone that the body makes. About 1 hour after this, participants will provide a final blood sample. Participants will receive one last pill of hydrocortisone prior to the end of the study.
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 99 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Diagnostic |
Official Title: | Modifier Genes in 21-Hydroxylase Deficiency |
Study Start Date : | August 2007 |
Actual Primary Completion Date : | March 2009 |
Actual Study Completion Date : | March 2009 |

Arm | Intervention/treatment |
---|---|
Experimental: 1 |
Procedure: Hydrocortisone withdrawal
This is considered a non-standard treatment. On Day 1, participants will receive one 10-mg pill of hydrocortisone. On Day 3, participants will receive intravenously a medicine called cosyntropin, a synthetic form of a hormone that the body makes. Participants will receive one last pill of hydrocortisone prior to the end of the study. |
- Serum 17-hydroxyprogesterone/cortisol ratio [ Time Frame: After cosyntropin administration ]
- Many other serum and urine steroids, metabolites, and precursors [ Time Frame: Before and after cosyntropin administration ]

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Ages Eligible for Study: | 18 Years to 50 Years (Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Diagnosis of 21OHD with two "severe" alleles, excluding the A/C656G mutation OR participant consents to genetic testing and a CYP21A2 mutation is identified
- Currently a patient at one of the participating centers
- Currently taking less than 15mg/m² hydrocortisone per day and has been for at least the past 3 months
Exclusion Criteria:
- History of adrenal crisis within 1 year prior to study entry
- Any coexisting condition requiring corticosteroid therapy (e.g., asthma, psoriasis)
- History of removal of both adrenal glands
- History of deficient pituitary gland function
- Current or past use of growth hormone therapy within 3 months prior to study entry
- Serum creatinine level greater than 2 mg/dL
- Systolic blood pressure less than 90 mm Hg
- History of critical illness or surgery that required general anesthesia within 1 month prior to study entry

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00542841
United States, New York | |
Mount Sinai School of Medicine | |
New York, New York, United States, 10029 | |
United States, Texas | |
University of Texas Southwestern Medical Center | |
Dallas, Texas, United States, 75390 | |
Brazil | |
University of Sao Paolo | |
Sao Paolo, SP, Brazil, 06403-900 |
Principal Investigator: | Richard J. Auchus, MD, PhD | University of Texas Southwestern Medical Center |
Responsible Party: | Maria I. New, Professor, Icahn School of Medicine at Mount Sinai |
ClinicalTrials.gov Identifier: | NCT00542841 |
Other Study ID Numbers: |
RDCRN 5607 U54RR019484 ( U.S. NIH Grant/Contract ) RR019484 |
First Posted: | October 12, 2007 Key Record Dates |
Last Update Posted: | December 14, 2015 |
Last Verified: | December 2015 |
Adrenal Hyperplasia, Congenital Steroid Biosynthesis Disorders |
Adrenal Hyperplasia, Congenital Adrenogenital Syndrome Disorders of Sex Development Urogenital Abnormalities Congenital Abnormalities Genetic Diseases, Inborn Steroid Metabolism, Inborn Errors |
Metabolism, Inborn Errors Metabolic Diseases Adrenal Gland Diseases Endocrine System Diseases Gonadal Disorders Hydrocortisone Anti-Inflammatory Agents |