History of Congenital Adrenal Hyperplasia


Luigi DeCrecchio, an Italian anatomist, first documents CAH in a female patient with enlarged adrenal glands, male appearing genitals but no testes, and an internal female reproductive system.
Researchers discover that CAH is caused by a disturbance in the normal feedback mechanism which produces cortisol in the adrenal glands, and that an effective treatment for the disorder is cortisone.
The 21-hydroxylase deficiency form of CAH is discovered to be transmitted as a genetic trait that affects both males and females. Generally speaking, each parent passes one copy of the abnormal gene giving their child a double dose of the abnormal gene, and hence the disorder.
CAH is categorized as several closely related disorders, each caused by different enzyme abnormalities. In addition to 21-hydroxylase deficiency, which accounts for about 95% of cases, abnormalities in the following enzymes can also result in CAH: 11 beta- hydroxylase, 17 alpha- hydroxylase, 3 beta-hydroxysteroid dehydrogenase, and 20-22 demolase.
CAH is successfully detected in a fetus by measuring elevated concentrations of adrenal hormones in amniotic fluid.
A high rate of CAH is reported in Yupik Eskimo native Alaskans (about 1 in 500 newborns).
Scientists at the Cornell Medical Center in New York develop a successful method for detecting 21-hydroxylase deficiency in newborns by measuring the level of hormone 17-hydroxyprogesterone (17-OHP) using dried blood on paper.
The location of the gene for 21-hydroxylase deficiency is discovered to be located on the short arm of the 6th chromosome. This discovery gives us a better understanding of the genetic transmission of CAH and the ability to determine carrier status in family members of affected individuals.
At an International Newborn Screening Meeting held in Tokyo, CAH is recommended as a disease which meets the criteria to be included in newborn screening systems.
A female fetus affected with CAH is successfully treated prenatally through the administration of dexamethasone to the mother.
A three year, federally funded research project to develop and evaluate newborn screening for CAH is initiated in Washington. Its purpose is to perfect a laboratory screening method for measuring 17-OHP, to determine how frequently the 21- hydroxylase deficiency form of CAH occurs in newborns (the other forms of CAH are not usually picked up by 17-OHP screening), and to assess whether screening for CAH meets the criteria generally accepted for mass newborn screening.

Reprinted by permission from Washington State CAH Parent Newsletter.

Texas included CAH in its Newborn Screening Program.
Last updated November 22, 2010