Endocrine Abstracts

Introduction: Perrault syndrome (PS) is a rare disease characterized by the association of a premature ovarian failure (with primary or secondary amenorrhea) and a sensorineural deafness. In this context we report the case of three patients presenting the association of these two anomalies.

Cases: We report the cases of three females, including two sisters from a consanguineous marriage, aged 21, 16 and 23 years, respectively. The two cardinal signs of this syndrome made of premature ovarian failure and sensorineural deafness were present in the three patients, associated with a Parkinsonian syndrome in the third case. The examination did not show any dysmorphic syndrome or mental retardation. The audiometric exploration of the two sisters concluded to a deafness whose endocochlear nature was confirmed by the auditory evoked potentials. Hormonal exploration confirmed the presence of hypergonadotropic hypogonadism in all three patients. All three patients had a 46XX caryotype, thus eliminating Turner syndrome. The immunological investigation was negative. Pelvic ultrasound in all three patients showed hypoplastic ovaries and uterus. The brain MRI of the two sisters showed an aspect in favor of a leukodystrophy, never described in the literature. The family investigation revealed an isolated congenital deafness in a nephew of both sisters, also from a consanguineous marriage. Biomolecular study in search of genes involved in gonadal and endocochlear differentiation is in progress.

Conclusion: Ovarian dysgenesis associated with sensorineural hearing loss are the cardinal features of Perrault syndrome. A range of associated neurological and neuroradiological disorders are increasingly reported in the literature. Certainly, advances in molecular biology will be able to support the etiopathogenic link between gonadal, auditory and neurological involvement in this syndrome.