Expired Study
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New York, New York 10029


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.

Study summary:

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.


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 Contact:

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

Claire Gilbert
Email: claire.gilbert@mssm.edu

Backup Contact:


Location Contact:

New York, New York 10029
United States

Claire Gilbert, MS
Phone: 212-241-7099
Email: claire.gilbert@mssm.edu

Site Status: Recruiting

Data Source: ClinicalTrials.gov

Date Processed: October 09, 2019

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