Salt-wasting congenital adrenal hyperplasia:Genotypical peculiarities in a Sicilian ethnic group

ABSTRACT. Here we report for the first time the results ofthe molecular study of 17 unrelated patients with salt-wasting(SW) congenital adrenal hyperplasia (CAH) belonging toa Sicilian ethnic group, as corroborated by patients’ pedigreetaken to include 2 generations in the paternal andmaternal lineage. The aim of this report was to confirmthat genetic basis of CAH may be characterized by populationdifferences. In our series, the overall predominantmutation was IVS2A/C>G, that was detected in 50% of allelesand in 58.8% of patients. The allelic and homozygousfrequencies of IVS2A/C>G, Del8bpE3, and R356W mutationswere significantly higher in our series than in otherpopulations. Our study population included 2 cases with2 different mutations that have been recently reported forthe first time, 3 cases with a double mutation on the sameallele, and 1 case with homozygous de novo mutation. Weconcluded that: a) in a Sicilian ethnic group the most frequentgenotype in SW CAH is IVS2A/C>G homozygocity; b)surprisingly Del8bpE3 and R256W homozygocity are alsowell represented.(J. Endocrinol. Invest. 31: 607-609, 2008)©2008, Editrice Kurtis