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Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers

Descriptive Information
Brief Title † Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers
Official Title † Long-Term Outcome in Offspring and Mothers of Dexamethasone-Treated Pregnancies at Risk for Classical Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency
Brief Summary Congenital adrenal hyperplasia (CAH) is a genetic disorder that affects the amount of steroids that the body forms. The most common form of CAH is 21-hydroxylase deficiency (21OHD), which leads to cortisol deficiency and causes the development of mature masculine characteristics in newborn, prepubescent, and grown females, and prepubescent males. Prenatal treatment with dexamethasone, a corticosteroid, has been shown to reduce the masculinization of genitalia. However, the long-term effects of dexamethasone on the children who received it as fetuses and on mothers who were exposed to it while they were pregnant have not been determined. This study will investigate potential long-term adverse side effects of prenatal dexamethasone treatment in children and young adults who received dexamethasone as fetuses and their mothers who were exposed to it during pregnancy.
Detailed Description 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. Prenatal treatment with dexamethasone, a corticosteroid that decreases androgen levels, has been shown to prevent the development of abnormal genitalia in female infants. The long-term effects of this treatment, however, have not been evaluated. This study will determine whether prenatal dexamethasone treatment causes any long-term side effects by examining children and young adults who received dexamethasone as fetuses and their mothers, who were exposed to dexamethasone while pregnant. This study has three parts. In Part 1 of the study, participants will provide written consent for release of their medical records from their physicians. Participants' physicians will then complete a medical form and/or provide copies of selected medical records for each participant. Parts 2 and 3 can be completed in 1 day. In Part 2 of the study, participants will complete questionnaires in their homes. Participants will answer questions about the following experiences: medical procedures, such as hormone treatment and genital surgery; education; work; hobbies; play activities and chores during childhood; identification with the male or female gender; relationships with parents; interest in being a parent; and overall adjustment. Part 3 of the study will consist of neuropsychological testing at the study site. This testing will focus on memory, attention, and overall cognitive abilities.
Study Phase N/A
Study Type † Observational
Study Design † Observational Model: Case Control, Time Perspective: Prospective
Primary Outcome Measure † Prevalence of hypertension and obesity
Secondary Outcome Measure †
Condition † Adrenal Hyperplasia, Congenital
Intervention †
Study Arms / Comparison Groups Category 1, Group 1 Children who have 21OHD and received prenatal dexamethasone treatment Category 1, Group 2 Children who have 21OHD and did not receive prenatal dexamethasone treatment (control) Category 2 Mothers of children who received prenatal dexamethasone treatment
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 233
Start Date † January 2008
Completion Date July 2009
Primary Completion Date July 2009
Eligibility Criteria † Inclusion Criteria: For all participants: - English-speaking - Has undergone DNA testing for mutations in the CYP21A2 gene For children who received prenatal dexamethasone treatment: - Genetic confirmation of 21OHD diagnosis - Received full or partial prenatal dexamethasone treatment For children in the control group: - Did not receive prenatal dexamethasone treatment For mothers: - History of at-risk pregnancy for a fetus affected with 21OHD - Genetic confirmation of child's diagnosis Exclusion Criteria: - Any mental disorder that could prevent understanding of study materials - Current or past steroid use for reasons other than CAH (i.e., asthma, lupus, rheumatoid arthritis)
Gender Both
Ages 12 Years - N/A
Accepts Healthy Volunteers Accepts Healthy Volunteers
Contacts †† Claire Gilbert, claire.gilbert@mssm.edu
Location Countries † United States
Administrative Information
NCT ID † NCT00617292
Organization ID RDCRN 5610
Secondary IDs ††
Responsible Party
Study Sponsor † Office of Rare Diseases (ORD)
Collaborators ††
Investigators † Study Chair: Maria I. New, MD, Mount Sinai School of Medicine
Information Provided By
Verification Date December 2008
First Received Date † January 31, 2008
Last Updated Date December 8, 2008
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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