Perrault syndrome
Hearing loss: Sensorineural hearing loss is bilateral and moderate to profound with onset pre-lingual (congenital) to early-childhood. When onset is in early childhood, hearing loss can be progressive. There is no evidence of impaired vestibular function.
Ovarian dysfunction: Affected females present with a spectrum of ovarian dysfunction ranging from gonadal dysgenesis presenting as primary amenorrhea (also known as primary ovarian failure) to primary ovarian insufficiency (POI) (presenting as secondary amenorrhea). Ovaries are small, streak or absent and hormone profiles indicate hypergonadotropic hypogonadism.
So far we do not think that the form of Perrault syndrome due to changes in the HARS2 gene causes neurological problems or a severe childhood illness (these problems can occur with some of the other genes that lead to Perrault syndrome).
HARS2