Clinical Characteristics

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. Variants in LARS2 have been associated with low-frequency sensorineural hearing loss. There is no evidence of impaired vestibular function.

Ovarian dysfunction: Affected females have gonadal dysfunction presenting as 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.

Neurological features: Members of families with LARS2-related Perrault syndrome have been reported with or without neurologic features which include; learning difficulties, developmental delay, and cerebellar ataxia. There is no consistent pattern observed in the neurological features.

Lethal infantile multisystem failure: Hydrops, sideroblastic anemia, lactic acidosis and multisystem failure including impaired cardiac function associated with structural abnormalities, hepatic and renal dysfunction.