title: [Perrault's syndrome: two cases].
abstract: Perrault's syndrome is an autosomal recessive ovarian dysgenesis associated with sensorineural deafness. We report two cases in sisters issuing from consanguinous parents. Aged 16 and 21 years, both patients present the two cardinal symptoms of the syndrome. Magnetic resonance imaging in the second sister showed high intensity signals in the periventricular and subcortical white substance and in the central ovale, suggestive of cerebral leucodystrophy. This element may be one of a wide spectrum of neurological symptoms found in Perrault's syndrome. The discovery of the causal genes may allow better understanding of the biomolecular mechanisms involved in gonad and sensorineural differentiation.
authors.affiliation: Service d'Endocrinologie, CHU Hédi Chaker, 3029 Sfax, Tunisie.
authors.forename: M
authors.initials: M
authors.lastname: Bellassoued
authors.forename: M
authors.initials: M
authors.lastname: Mnif
authors.forename: H
authors.initials: H
authors.lastname: Marouene
authors.forename: S
authors.initials: S
authors.lastname: Kammoun
authors.forename: A
authors.initials: A
authors.lastname: Ghorbel
authors.forename: J
authors.initials: J
authors.lastname: Mnif
authors.forename: F
authors.initials: F
authors.lastname: Ayadi
authors.forename: M
authors.initials: M
authors.lastname: Drira
authors.forename: M S
authors.initials: MS
authors.lastname: Kchaou
authors.forename: M
authors.initials: M
authors.lastname: Abid
mesh_terms: D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000188:drug therapy / Q000235:genetics; D001921:Brain / Q000473:pathology*; D003241:Consanguinity; D003638:Deafness / Q000151:congenital / Q000235:genetics*; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000097:blood / Q000235:genetics* / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics*; D006728:Hormones / Q000097:blood; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D010053:Ovary / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome
chemical_list: D006728:Hormones