A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy

We describe a patient with 46,XY partial gonadal dysgenesis (PGD) who prese nted with polyneuropathy. Sural nerve pathology revealed peculiar findings characterized by extensive minifascicular formation within the endoneurium and with a decreased density of myelinated fibers. We found, in the patient , a homozygous missense mutation (ATG-->ACG) at the initiating codon in exo n 1 of the desert hedgehog (DHH) gene, which predicts a failure of translat ion of the gene. The same heterozygous mutation was found in the patient's father. This is the first report of a human DHH gene mutation, and the find ings demonstrate that mutation of the DHH gene may cause 46,XY PGD associat ed with minifascicular neuropathy.