Homozygous alpha-thalassemia associated with hypospadias in three survivors

We report three cases of homozygous alpha-thalassemia (alpha TH) who surviv ed beyond the neonatal period, all with hypospadias. A review of literature identified two additional male cases of homozygous alpha TH who survived, and both had hypospadias. The simultaneous occurrence of the two conditions seems beyond coincidence and may be causally related. Possible pathogenesi s for the association may be 1) homozygous alpha TH-induced in utero and/or edema secondary to hydrops fetalis, both leading to the failure of proper fusion of the urogenital folds, or 2) defect of another gene located at a c hromosome 16p13.3 region, Thus, parents who request intrauterine therapy fo r a male fetus with homozygous alpha TH should be informed about this assoc iation and its prognosis, (C) 1999 Wiley-Liss, Inc.