Deafness-Hypogonadism Syndrome

In a pedigree strongly supportive of X-linked recessive inheritance, Myhre et al. (1982) described 5 males with severe congenital mixed hearing loss and primary hypogonadism. The affected males also showed antisocial and immature behavior. An isolated case was observed in an unrelated family. Partial heterochromia iridis occurred in both affected and unaffected members of the large pedigree. It is not clear from the article whether the 'unaffected' persons with heterochromia iridis were carrier females. Audiograms in carrier females showed no hearing loss. Brunner et al. (1991) suggested that this phenotype represents a contiguous gene syndrome. Evidence supporting that was presented by Bach et al. (1992): in a study with molecular probes of 13 unrelated male probands with Gusher-associated, X-linked mixed deafness (DFN3; 304400), they found microdeletions in 2. One of these, from the family of Myhre et al. (1982), had the more extensive deletion, suggesting a locus for hypogonadism in the vicinity of the DFN3 gene. It was stated that the proband, TD, had a fixed stapes and gusher with progressive mixed deafness.