Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers
Information source: Office of Rare Diseases (ORD)
Information obtained from ClinicalTrials.gov on November 03, 2008
Link to the current ClinicalTrials.gov record.
Condition(s) targeted: Adrenal Hyperplasia, Congenital
Phase: N/A
Status: Recruiting
Sponsored by: Office of Rare Diseases (ORD) Official(s) and/or principal investigator(s):
Maria I. New, MD, Study Chair, Affiliation: Mount Sinai School of Medicine
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.
Clinical Details
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
Study design: Case Control, Prospective
Primary outcome: Prevalence of hypertension and obesity"Normal" masculinization of unaffected females treated prenatally with dexamethasone Normal masculinization of male fetuses partially treated prenatally with dexamethasone Memory-related cognitive function
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.
Eligibility
Minimum age: 12 Years.
Maximum age: N/A.
Gender(s): Both.
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)
Locations and Contacts
University of Lyon, Lyon, France; Not yet recruiting
Pierre Chatelain, MD, Phone: 04-72-38-58-73, Email: pierre.chatelain@chu-lyon.fr
Pierre Chatelain, MD, Principal Investigator
Maguelone Forest, MD, PhD, Sub-Investigator
Michael David, MD, Sub-Investigator
Mount Sinai School of Medicine, New York, New York 10029, United States; Recruiting
Claire Gilbert, MS, Phone: 212-241-7099, Email: claire.gilbert@mssm.edu
Maria I. New, MD, Principal Investigator
Madeline Harbison, MD, Sub-Investigator
Karen Lin-Su, MD, Sub-Investigator
Robert Wilson, PhD, Sub-Investigator
Saroj Nimkarn, MD, Sub-Investigator
Susan Baker, PhD, Sub-Investigator
Heino Meyer-Bahlburg, PhD, Sub-Investigator
University of Sao Paolo, Sao Paolo, SP, Brazil; Not yet recruiting
Ivo Arnhold, MD, Phone: 55-11-3069-7512, Email: iarnhold@usp.br
Ivo Arnhold, MD, Principal Investigator
Berenice Mendonca, MD, PhD, Sub-Investigator
University of Texas Southwestern Medical Center, Dallas, Texas 75390, United States; Not yet recruiting
Jean Wilson, MD, Phone: 214-648-3494, Email: jean.wilson@utsouthwestern.edu
Jean Wilson, MD, Principal Investigator
Richard Auchus, MD, PhD, Sub-Investigator
Additional Information
Click here for the Rare Genetic Steroid Disorders Consortium Web site and for information about this study
Starting date: January 2008
Ending date: July 2009
Last updated: February 5, 2008
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