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.

Gonadal dysgenesis



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PMID (PMCID)
23332201
 FEMALE
Genotype and phenotype heterogeneity in perrault syndrome.
Kim MJ, Kim SJ, Kim J, Chae H, Kim M, Kim Y.
J Pediatr Adolesc Gynecol. 2013;26(1):e25-7.
We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome.
23087880
(3475920)
 OTHER
A rare cause for primary amenorrhea: Sporadic perrault syndrome.
Ameen KH, Pinninti R.
Indian J Endocrinol Metab. 2012;16(5):843-5.
Perrault syndrome is a rare autosomal recessive condition affecting both females and males, only females have gonadal dysgenesis associated with sensorineural deafness which is present in both sexes.
23087880
(3475920)
 OTHER
A rare cause for primary amenorrhea: Sporadic perrault syndrome.
Ameen KH, Pinninti R.
Indian J Endocrinol Metab. 2012;16(5):843-5.
In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault syndrome.
23162364
(3493840)
 OTHER
A rare cause for primary amenorrhoea.
Ameen KH, Pinninti R.
J Hum Reprod Sci. 2012;5(2):218-20.
Perrault syndrome is a rare autosomal recessive condition affecting both females and males; only females have gonadal dysgenesis associated with sensorineural deafness, which is present in both sexes.
15216544
 FEMALE Adult
Perrault syndrome: evidence for progressive nervous system involvement.
Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM.
Am J Med Genet A. 2004;128A(3):246-9.
Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males.