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

CONCLUSION: Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation. Gonadal dysgenesis in these cases may be due to impairment of Sertoli cell - Leydig cell interaction during gonadal development.
PMID: 25927242 [PubMed - as supplied by publisher]

Source: The Journal of Clinical Endocrinology and Metabolism - April 30, 2015 Category: Endocrinology Authors: Werner R, Merz H, Birnbaum W, Marshall L, Schröder T, Reiz B, Kavran JM, Bäumer T, Capetian P, Hiort O Tags: J Clin Endocrinol Metab Source Type: research