ESPE Abstracts

Screening for congenital adrenal hyperplasia through the measurement of 17-hydroxyprogesterone on the neonatal blood spot, aims to: prevent neonatal deaths; allow earlier identification and thereby decrease the severity of the initial salt-wasting episode; and to shorten the time during which a severely virilized genetic female newborn may be assigned the male sex. It is now practiced in most high-income countries, although the positive predictive value of the test is very low...

Background: Triple A syndrome (AAAS, OMIM#231550) is a very rare inherited disease characterized by the association of chronic adrenal insufficiency, achalasia, alacrima and central and peripheral neurological disorders. It is caused by mutations in the AAAS gene which encodes the nuclear pore complex scaffolding protein ALADIN. The relative prevalence and genotype of AAAS in the Maghreb countries has not been ascertained.Objecti...