Perrault syndrome

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

Infertility



Total: 1

                      


(per page)
PMID (PMCID)
27087618
(5198008)
MIXED_SAMPLE Young Adult
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Krmzbekmez H.
J Clin Res Pediatr Endocrinol. 2016;8(4):472-477.
Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature ovarian failure or infertility in females.