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Congenital Adrenal Hyperplasia (CAH): Research Activities and Scientific Advances

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CAH can be life-threatening in newborns and can compromise the healthy growth and development of children. In addition, CAH threatens fertility in both men and women. Currently available treatments make it possible for many CAH patients to achieve health and fertility. The NICHD has contributed to research on treatments for CAH and continues to study ways to optimize these treatments. 

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. 

The NICHD maintains an active role in this field, supporting ongoing studies to understand the genetics of CAH, develop new and improved treatment, and address complications that arise from CAH such as hypoglycemia and metabolic syndrome.

Institute Activities and Advances

Current NICHD-supported research on CAH includes studies on the genetic mutations that cause the disorder and the pertinent family genetics. Additional studies are focused on characterizing CAH and its complications in adults and children and on improving methods for screening and evaluation. NICHD researchers also conduct clinical trials on new and optimized drug treatments for CAH. An ongoing Natural History Study has characterized clinical and genetic aspects of CAH in over 250 patients.

NICHD researchers within the Program on Developmental Endocrinology and Genetics in the Division of Intramural Research (DIR) conduct studies to characterize the genotypes of parents of children with the classic CAH and to examine the structure and function of the adrenal glands in patients with the classic form of the disorder. Research also assesses complications linked to the disorder, such as hypoglycemia and insulin resistance, and tests new versions of medications intended for use as treatments.

Within the NICHD Division of Extramural Research (DER) , the Pediatric Growth and Nutrition Branch has supported research about genetic and molecular mechanisms of adrenal gland hyperplasia, prenatal screening for the disorder, and prenatal treatment of classic CAH with dexamethasone. The Branch also has supported studies to characterize novel mutations in genes for enzymes involved in CAH.

In addition, an ongoing clinical trial sponsored by the NICHD's Child Development and Behavior Branch, also in the DER, is focusing on gender development and gender identity in girls with CAH.

Other Activities and Advances


Last Updated Date: 07/31/2013
Last Reviewed Date: 07/09/2013

Scientific Resources

Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology