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Congenital Adrenal Hyperplasia (CAH): For Researchers and Health Care Providers

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  • ​History of NICHD Research on CAH
    The NICHD has a long history of advances in the CAH research field. In the 1960s and 1970s, NICHD-supported researchers identified the genetic mutations that lead to the most common form of CAH (21-hydroxylase deficiency), identified nonclassic CAH, and described the effects of CAH on female fertility.
  • NICHD Pediatric Growth and Nutrition Branch (PGNB)
    Within the NICHD Division of Extramural Research (DER) , the PGNB actively supports CAH research. Read more about the research supported by this Branch (formerly the Endocrinology, Nutrition, and Growth Branch) in its 2009 report to the National Advisory Child Health and Human Development Council.
  • NICHD Child Development and Behavior Branch (CDDB)
    An ongoing clinical trial sponsored by the CDBB is focusing on gender development and gender identity in girls with CAH. Learn more about CDDB-supported research.
  • Conference on the Adrenal Cortex External Web Site Policy
    This biennial conference is for basic and clinical scientists and clinicians with specific interests in the adrenal cortex. Authorities in the field present current findings on topics related to the adrenal cortex. Cosponsors include the NICHD's Program in Developmental Endocrinology and Genetics in the Division of Intramural Research. More information about the research conducted by this program is available in the Division’s annual report.
  • The Endocrine Society Clinical Practice Guideline for CAH due to 21-Hydroxylase Deficiency
    The CAH guideline was published in the Journal of Clinical Endocrinology and Metabolism in 2010.
  • NIH Clinical Guidance
    In 2008, NIH researchers published clinical guidance on treating adult patients with CAH. The full citation is: 
    Merke, D. P. (2008). Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 93(3), 653-660. PMID: 18326005

Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.

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