Perrault syndrome

Also known as: Ovarian dysgenesis with sensorineural deafness

Sensorineural hearing loss in both sexes with ovarian failure in females.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Reproductive endocrinology
Sex & age distribution: Male: affected with deafness; Female: affected with deafness and ovarian failure; Children: yes, deafness in childhood
Gene(s) involved: CLPP, ERAL1, GGPS1, HARS2, HSD17B4, LARS2, LRPPRC, RMND1, TWNK

Etiology & mechanism

Defects in mitochondrial translation and protein quality control.

Gene(s) involved (9)

CLPPERAL1GGPS1HARS2HSD17B4LARS2LRPPRCRMND1TWNK

Symptoms & signs (7)

ataxiainfertilityneuropathyovarian failureprimary amenorrheasensorineural deafnessstreak ovaries

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.