Perrault Syndrome – A Rare Case Report
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 h...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2015-03-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/5641/10992_CE(Ra1)_F(GH)_PF1(NJAK)_PFA(AK)_PF2(PAG).pdf |
| _version_ | 1818112195854073856 |
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| author | Sampathkumar Geethalakshmi Veerasigamani Narendrakumar |
| author_facet | Sampathkumar Geethalakshmi Veerasigamani Narendrakumar |
| author_sort | Sampathkumar Geethalakshmi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T03:15:05Z |
| format | Article |
| id | doaj.art-3bd63bc8aa67449f9b13a42440d37859 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-11T03:15:05Z |
| publishDate | 2015-03-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-3bd63bc8aa67449f9b13a42440d378592022-12-22T01:22:46ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2015-03-0193OD01OD0210.7860/JCDR/2015/10992.5641Perrault Syndrome – A Rare Case ReportSampathkumar Geethalakshmi0Veerasigamani Narendrakumar1Assistant Professor, Department of General Medicine, Aarupadai Veedu Medical College, Puducherry, Formerly Junior Resident, Government Stanley Medical College Hospital, Chennai, India.Formerly Junior Resident, Department of ENT, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, India.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.https://jcdr.net/articles/PDF/5641/10992_CE(Ra1)_F(GH)_PF1(NJAK)_PFA(AK)_PF2(PAG).pdfkaryotypepure gonadal dysgenesissensorineural deafness |
| spellingShingle | Sampathkumar Geethalakshmi Veerasigamani Narendrakumar Perrault Syndrome – A Rare Case Report Journal of Clinical and Diagnostic Research karyotype pure gonadal dysgenesis sensorineural deafness |
| title | Perrault Syndrome – A Rare Case Report |
| title_full | Perrault Syndrome – A Rare Case Report |
| title_fullStr | Perrault Syndrome – A Rare Case Report |
| title_full_unstemmed | Perrault Syndrome – A Rare Case Report |
| title_short | Perrault Syndrome – A Rare Case Report |
| title_sort | perrault syndrome a rare case report |
| topic | karyotype pure gonadal dysgenesis sensorineural deafness |
| url | https://jcdr.net/articles/PDF/5641/10992_CE(Ra1)_F(GH)_PF1(NJAK)_PFA(AK)_PF2(PAG).pdf |
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