NICHD Congenital Adrenal Hyperplasia Research Information

For more than 50 years, the NICHD has been conducting and supporting the study of CAH through intramural and extramural research. The institute is the primary source of funding for CAH research within the NIH.

NICHD conducts and supports research on many aspects of CAH. The institute maintains a leading role in this field with ongoing studies into the genetics and the treatment of CAH, and the links between CAH and other conditions, such as hypoglycemia and metabolic syndrome.

NICHD research efforts related to CAH span topics including:

  • The genetics of CAH. NICHD researchers have studied the parents of children with CAH to look for genetic patterns.
  • Prenatal treatment of CAH. NICHD researchers were the first to test the idea that giving dexamethasone to pregnant women at risk of carrying infants with CAH could reduce or prevent male-like external genitals in female newborns. Additional research on this and other treatments is ongoing.
  • Insulin and blood sugar regulation. Research has found that children with classic CAH have higher-than-normal insulin levels and may have lower than normal blood-sugar levels during physical stresses. Research is ongoing to understand the effects of both of these phenomena and how they might affect people with CAH over their lifetimes.

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. NICHD has contributed to research on treatments for CAH and continues to study ways to optimize these treatments.

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 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

  • The biennial Conference on the Adrenal Cortex external link 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 Program in Developmental Endocrinology and Genetics in the Division of Intramural Research.
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