Perrault syndrome
An extraordinary genetic syndrome that is inherited in an autosomal recessive manner and affects both males and females but with a dramatic difference. Affected males and females both have moderate to severe deafness but only affected females have gonadal dysgenesis. They have streak gonads in place of their ovaries and they consequently have primary amenorrhea (never menstruate) and are infertile.
The syndrome was first described by Perrault et al. in 1951. The gene for the syndrome has not yet been identified.
Perrault syndrome is also called XX gonadal dysgenesis with sensorineural deafness.
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