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5610: Long-Term Outcome in Offspring and Mothers of Dexamethasone-Treated Pregnancies at Risk for Classical Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency

Status: Recruiting

Study Summary

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Background

Prenatal diagnosis and treatment of congenital adrenal hyperplasia has been conducted since 1986. Prenatal treatment with dexamethasone prevents abnormal genitalia in female newborns. We are studying whether prenatal treatment with dexamethasone has any long-term effects on those boys and girls (men and women) who were treated as fetuses and who are now 12 years and older. We will examine their medical and psychological outcome. 

Targeted Enrollment:

Participants will be patients with congenital adrenal hyperplasia or unaffected subjects who were treated partially or until term in a pregnancy at risk for 21-hydroxylase deficiency.  Mothers who were administered dexamethasone during pregnancy will be included in the study.

To be eligible to participate, you must:

  • Be literate in English
  • Be 12 years of age or older  OR be a mother treated with dexamethasone for an at-risk pregnancy
  • Have been tested in the past for mutations in the CYP21A2 gene

You are not eligible to participate if:

  • Mental impairment which prevents understanding of questionnaire
  • Any participant who is receiving/has received steroids for reasons other than CAH (including but not limited to: asthma, lupus, rheumatoid arthritis)

How to Participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

  • Mt. Sinai School of Medicine (GSDC) - New York, New York
    Principal Investigator: Maria New, MD
    Contact: Claire Gilbert
    E-mail: claire.gilbert@mssm.edu
    Phone: 212-241-7099

Join the Contact Registry for: Congenital Adrenal Hyperplasia