An observational study in Adrenal Hyperplasia, Congenital, sponsored by Office of Rare Diseases (ORD). Status unknown at 4 sites in 3 countries. Open to participants aged 12 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2008-12-09.
Sponsored by Office of Rare Diseases (ORD) · Observational
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.
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.
107 studies on the registry are indexed under Adrenal Hyperplasia, Congenital; 29 are open to participants now.
This study's planned enrollment of 233 is above the median of 60 across 45 observational studies indexed under Adrenal Hyperplasia, Congenital.
Browse Adrenal Hyperplasia, Congenital studies →Office of Rare Diseases (ORD) is the lead sponsor of 6 studies on the registry; none are open to participants now.
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Participants in this study will include children who received prenatal dexamethasone treatment as fetuses and their mothers.
For all participants:
For children who received prenatal dexamethasone treatment:
For children in the control group:
For mothers:
Exclusion Criteria:
Children who have 21OHD and received prenatal dexamethasone treatment
Children who have 21OHD and did not receive prenatal dexamethasone treatment (control)
Mothers of children who received prenatal dexamethasone treatment
Prevalence of hypertension and obesity
Time frame: Throughout the study
"Normal" masculinization of unaffected females treated prenatally with dexamethasone
Time frame: Throughout the study
Normal masculinization of male fetuses partially treated prenatally with dexamethasone
Time frame: Throughout the study
Memory-related cognitive function
Time frame: Throughout the study
This study is status unknown, as verified in Dec 2008. You cannot join it, but the record below documents what was studied.
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Adrenal Hyperplasia, Congenital→
Office of Rare Diseases (ORD)