Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome

Genetic alterations that involve the inner ear and other systems may present well-defined clinical differences. We present two oriental sisters, age 34 and 26 years, with a picture of primary amenorrhea and "infantile" uterus associated with progressive hearing loss begun in infancy in the older sister, and after 20 years of age in the younger sister. The gynecologic evaluation showed uterine hypoplasia and gonadal dysgenesis in both sisters. The audiologic study showed bilateral sensorineural hearing loss with a flat-type curve in both cases, with an average threshold of 500, 1000 and 2000 Hz (PTA) in 80 dB (older sister) and 60 dB (younger sister), with recruitment measured by stapedial reflex in the second case. Vocal discrimination was 30 percent and 80 percent, respectively. The clinical picture fits Perrault's syndrome: recessive autosomal genetic alteration, with XX gonadal dysgenesis and sensorineural hearing loss.