PERRAULT SYNDROME - AUTOSOMAL RECESSIVE OVARIAN DYSGENESIS WITH FACULTATIVE, NON-SEX-LIMITED SENSORINEURAL DEAFNESS

The authors report 3 sisters with ovarian dysgenesis; all 3 and 2 of their otherwise apparently normal brothers also had moderate to severe sensorineural deafness. Three similarly affected sibships are known, and the total of 14 affected patients includes 3 males with deafness without gonadal defect, 1 woman with ovarian dysgenesis without deafness, and 10 women with ovarian dysgenesis and deafness. In 2 families parental consanguinity is known. The authors conclude that this condition, which they propose to designate the Perrault syndrome, is an uncommon autosomal recessive trait with obligatory ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes. Right bundle branch block and mental retardation may possibly be additional, less common pleiotropic manifestations.