Fee
06-17-05, 12:59 PM
In the Lancet today is a report of a seminar on CAH which I thought would be of interest to BLO members. Below is the summary.
http://www.thelancet.com/journals/lancet/article/PIIS0140673605667360/abstract
The Lancet 2005; 365:2125-2136
DOI:10.1016/S0140-6736(05)66736-0
Congenital adrenal hyperplasia
Deborah P Merke and Stefan R Bornstein
Summary
Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15 000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.
http://www.thelancet.com/journals/lancet/article/PIIS0140673605667360/abstract
The Lancet 2005; 365:2125-2136
DOI:10.1016/S0140-6736(05)66736-0
Congenital adrenal hyperplasia
Deborah P Merke and Stefan R Bornstein
Summary
Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15 000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.