Perrault syndrome [12 genes]

Perrault syndrome is a very rare autosomal recessive disease that combines bilateral sensorineural hypoacusis in both sexes and ovarian dysfunction in women with a 46, XX karyotype (primary amenorrhea or premature ovarian insufficiency). A certain proportion of cases show neurological manifestations (ataxia, neuropathy, developmental delay).

• < 1:1,000,000 individuals

The clinical and genetic identification of this syndrome allows planning audiologic and reproductive monitoring, guiding familial genetic counseling, and early detection of potential neurologic complications, thus optimizing diagnostic resources in pictures of hypoacusis with ovarian insufficiency.

This service is indicated in women with a 46, XX karyotype and with sensorineural hypoacusis associated with primary amenorrhea/ovarian insufficiency; it should also be considered in families with several individuals affected with hypoacusis and female gonadal dysfunction, as well as in males with hypoacusis in the presence of a compatible family history.