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 a leading 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.
Within the Program on Developmental Endocrinology and Genetics in the NICHD Division of Intramural Research (DIR), studies have been supported 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 has been conducted to assess complications linked to the disorder, such as hypoglycemia and insulin resistance, and to test new versions of medications intended for use as treatments.
The NICHD 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.
An ongoing clinical trial sponsored by the NICHD's Child Development and Behavior Branch is focusing on gender development and gender identity in girls with CAH.
Other Activities and Advances
This biennial Conference on the Adrenal Cortex 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.