title: Perrault syndrome - a rare case report.
abstract: Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings have also been reported. Herein we report a case of sporadic Perrault syndrome in 18-year-old female who presented to our hospital with deaf mutism and primary amenorrhoea. On evaluation, the patient had hypergonadotropic hypogonadism, streak gonads and a normal karyotype (46 XX). Audiologic evaluation showed sensorineural deafness. The patient was started on hormone replacement therapy. She is on regular follow up. We present this case for its infrequent incidence and also to add to the ever expanding clinical spectrum of this disease.
authors.affiliation: Assistant Professor, Department of General Medicine, Aarupadai Veedu Medical College, Puducherry, Formerly Junior Resident, Government Stanley Medical College Hospital , Chennai, India .
authors.forename: Geethalakshmi
authors.initials: G
authors.lastname: Sampathkumar
authors.affiliation: Formerly Junior Resident, Department of ENT, Madras Medical College and Rajiv Gandhi Government General Hospital , Chennai, India .
authors.forename: Narendrakumar
authors.initials: N
authors.lastname: Veerasigamani
keywords: Karyotype; Pure gonadal dysgenesis; Sensorineural deafness