46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

Werner R, Merz H, Birnbaum W, Marshall L, Schröder T, Reiz B, Kavran JM, Bäumer T, Capetian P, Hiort O.

J Clin Endocrinol Metab. 2015 Jul;100(7):E1022-9. doi: 10.1210/jc.2015-1314. Epub 2015 Apr 30.

http://www.ncbi.nlm.nih.gov/pubmed/25927242