[Perrault's syndrome: two cases]

Ann Endocrinol (Paris). 2001 Dec;62(6):534-7.
[Article in French]

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Amenorrhea / drug therapy
  • Amenorrhea / genetics
  • Brain / pathology*
  • Consanguinity
  • Deafness / congenital
  • Deafness / genetics*
  • Female
  • Gonadal Dysgenesis, 46,XX / blood
  • Gonadal Dysgenesis, 46,XX / genetics*
  • Gonadal Dysgenesis, 46,XX / pathology
  • Hearing Loss, Sensorineural / congenital
  • Hearing Loss, Sensorineural / genetics*
  • Hormones / blood
  • Humans
  • Infertility, Female / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Ovary / abnormalities*
  • Pedigree
  • Syndrome

Substances

  • Hormones