The guideline is endorsed by the American Academy of Pediatrics, Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Endocrinology, the Society for Pediatric Urology, the Androgen Excess and PCOS Society, and the CARES Foundation.
CAH is a genetic disorder of the adrenal glands that affects about one in 10,000 to 20,000 newborns, both male and female. The adrenal glands make the steroid hormones cortisol, aldosterone and androgens. In individuals with CAH, the adrenal glands produce an imbalance of these hormones which can result in ambiguous genitalia in newborn females, infertility and the development of masculine features such as development of pubic hair, rapid growth in both girls and boys before the expected age of puberty.
"If CAH is not recognized and treated, both girls and boys undergo rapid postnatal growth and early sexual development or, in more severe cases, neonatal salt loss and death," said Phyllis Speiser chair of the task force that developed the guideline. "We recommend that every newborn be screened for CAH and that positive results be followed up with confirmatory tests."
Other recommendations from the guideline include:
"People with classic CAH should have a team of health care providers, including specialists in pediatric endocrinology, pediatric urologic surgery (for girls), psychology and genetics," said Speiser. "Other than having to take daily medication, people with classic CAH can have a normal life."
MEDICA.de; Source: The Endocrine Society