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

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 Type

Observational

Primary Outcome

Prevalence of hypertension and obesity

Condition

Adrenal Hyperplasia, Congenital

Study Arms / Comparison Groups

 Category 1, Group 1

Description:  Children who have 21OHD and 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.

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

All

Ages

12 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Maria I. New, MD, , [email protected]

Location Countries

Brazil

Location Countries

Brazil

NCT ID

NCT00617292

Organization ID

RDCRN 5610

Study Sponsor

Office of Rare Diseases (ORD)

Study Sponsor

Maria I. New, MD, Study Chair, Icahn School of Medicine at Mount Sinai

Verification Date

December 2008