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 presented 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 exon 1 of the desert hedgehog (DHH) gene, which predicts a failure of...