Newborn Screening and Outcomes for Congenital Adrenal Hyperplasia


  • Study type

  • Study IDs

  • Describes the nature of a clinical study. Types include:

    • Observational study — observes people and measures outcomes without affecting results.
    • Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
    • Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
  • Site IRB
    • Rochester, Minnesota: 14-004949
    Sponsor Protocol Number: 14-004949

About this study

The objective of this study is to evaluate the role of molecular testing to improve newborn screening (NBS) for congenital adrenal Hyperplasia (CAH).

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. If you need assistance understanding the eligibility criteria, please contact the study team.

See eligibility criteria

Inclusion Criteria:

  • Children with 21 hydroxylase deficiency and/or either/both biological parent(s)

Exclusion Criteria: 

  • Children who do not have 21 hydroxylase deficiency and their biological parents


Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Aida Lteif, M.D.

Closed for enrollment

Contact information:

Julia Byrne



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