Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …

Acute fatty liver of pregnancy (AFLP) is an obstetric emergency characterized by maternal
liver failure and may have complications for the mother and fetus, including death. This …

Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase
deficiency clinical practice guideline published by the Endocrine Society in 2010 …

Objective: We developed clinical practice guidelines for congenital adrenal hyperplasia
(CAH). Participants: The Task Force included a chair, selected by The Endocrine Society …

Rare genetic diseases collectively impact millions of individuals in the United States. These
patients and their families share many challenges including delayed diagnosis, lack of …

Congenital adrenal hyperplasia (CAH) caused by steroid 21-hydroxylase deficiency occurs
in 1: 16,000–1: 20,000 births. If not promptly diagnosed and treated, CAH can cause death …

Inborn errors of metabolism (IEM) are genetic disorders in which specific enzyme defects
interfere with the normal metabolism of exogenous (dietary) or endogenous protein …

Background A large, recent multicenter trial found that induction of labor at 39 weeks for low-
risk nulliparous women was not associated with an increased risk of cesarean delivery or …

Background: Proposals for population screening for genetic diseases require careful
scrutiny by decision makers because of the potential for harms and the need to demonstrate …

Background States vary widely in their use of newborn screening tests, with some
mandating screening for as few as three conditions and others mandating as many as 43 …