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.

Primary amenorrhea



Total: 4

                       


(per page)
PMID (PMCID)
28832386
 MIXED_SAMPLE Young Adult
Marfanoid habitus is a nonspecific feature of Perrault syndrome.
Zerkaoui M, Demain LAM, Cherkaoui Jaouad I, Ratbi I, Amjoud K, Urquhart JE, O'Sullivan J, Newman WG, Sefiani A.
Clin Dysmorphol. 2017;26(4):200-204.
The affected siblings were diagnosed as having Perrault syndrome with sensorineural hearing loss at low frequencies; the female proband had primary amenorrhea and ovarian dysgenesis.
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.
We present a case of Sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features, and normal karyotype.
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.
A rare cause for primary amenorrhea: Sporadic perrault syndrome.
23162364
(3493840)
 OTHER
A rare cause for primary amenorrhoea.
Ameen KH, Pinninti R.
J Hum Reprod Sci. 2012;5(2):218-20.
We present a case of sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features and normal karyotype.