Clinical trial NCT00617292: 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
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Adrenal Hyperplasia, Congenital
Keywords: 21-hydroxylase deficiency
21OHD
CAH
Lead sponsor: Office of Rare Diseases (ORD)
Sponsor class: NIH
First posted: 2008-02-18
Enrollment: 233
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants in this study will include children who received prenatal dexamethasone treatment as fetuses and their mothers.

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.

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)

Primary outcomes:
measure: Prevalence of hypertension and obesity
timeFrame: Throughout the study
measure: "Normal" masculinization of unaffected females treated prenatally with dexamethasone
timeFrame: Throughout the study
measure: Normal masculinization of male fetuses partially treated prenatally with dexamethasone
timeFrame: Throughout the study
measure: Memory-related cognitive function
timeFrame: Throughout the study
Secondary outcomes:
Other outcomes:
Locations:
city: New York
country: United States
facility: Mount Sinai School of Medicine
state: New York
city: Dallas
country: United States
facility: University of Texas Southwestern Medical Center
state: Texas
city: Sao Paolo
country: Brazil
facility: University of Sao Paolo
state: SP
city: Lyon
country: France
facility: University of Lyon
Study officials:
affiliation: Icahn School of Medicine at Mount Sinai
name: Maria I. New, MD
role: STUDY_CHAIR
References: