Perrault syndrome - a rare case report

• Published in: Journal of clinical and diagnostic research Vol. 9; no. 3; pp. OD01 - OD02
• Main Authors: Sampathkumar, Geethalakshmi, Veerasigamani, Narendrakumar
• Format: Journal Article
• Language: English
• Published: India JCDR Research and Publications (P) Limited 01-03-2015; JCDR Research and Publications Private Limited
• Subjects: Internal Medicine Section; karyotype; pure gonadal dysgenesis; sensorineural deafness; Sensorineural deafness; Pure gonadal dysgenesis; Karyotype
• ISSN: 2249-782X; 0973-709X
• DOI: 10.7860/JCDR/2015/10992.5641

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.