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.
For all participants:
- 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
- History of at-risk pregnancy for a fetus affected with 21OHD
- Genetic confirmation of child's diagnosis
- Any mental disorder that could prevent understanding of study materials
- Current or past steroid use for reasons other than CAH (i.e., asthma, lupus,