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

NCT ID: NCT00617292

Last Updated: 2008-12-09

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 233 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2008-01-31
• Study Completion Date: 2009-07-31

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.

Conditions

Adrenal Hyperplasia, Congenital

Keywords

21-hydroxylase deficiency; 21OHD; CAH

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Category 1, Group 1

Children who have 21OHD and received prenatal dexamethasone treatment

No interventions assigned to this group

Category 1, Group 2

Children who have 21OHD and did not receive prenatal dexamethasone treatment (control)

No interventions assigned to this group

Category 2

Mothers of children who received prenatal dexamethasone treatment

No interventions assigned to this group

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)

• Minimum Eligible Age: 12 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Office of Rare Diseases (ORD)

NIH

Sponsor Role: lead

Responsible Party

Mount Sinai School of Medicine

Principal Investigators

Maria I. New, MD

Role: STUDY_CHAIR

Icahn School of Medicine at Mount Sinai

Locations

Mount Sinai School of Medicine

New York, New York, United States

Site Status: RECRUITING

University of Texas Southwestern Medical Center

Dallas, Texas, United States

Site Status: NOT_YET_RECRUITING

University of Sao Paolo

São Paulo, São Paulo, Brazil

Site Status: NOT_YET_RECRUITING

University of Lyon

Lyon, , France

Site Status: RECRUITING

Countries

United States; Brazil; France

Central Contacts

Claire Gilbert

Role: CONTACT

Email: claire.gilbert@mssm.edu

Facility Contacts

Claire Gilbert, MS

Role: primary

Jean Wilson, MD

Role: primary

Ivo Arnhold, MD

Role: primary

Pierre Chatelain, MD

Role: primary

Other Identifiers

RDCRN 5610

Identifier Type: -

Identifier Source: org_study_id