Article
Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.
European journal of pediatrics - 1 Mar 2009
Toromanovic Alma, Tahirovic Husref, Milenkovic Tatjana, Koehler Katrin, Kind Barbara, Zdravkovic Dragan, Hasanhodzic Mensuda, Huebner Angela
Abstract excerpt
The triple A syndrome is a rare autosomal recessive disease that is characterised by the triad of adrenocorticotropin (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. In most patients, neurological and dermatological abnormalities are associated features. We report on the first Bosnian patient with triple A syndrome. Endocrine investigation confirmed primary adrenal insufficiency at the age of 5.8...
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