Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea
Perrault syndrome is a rare autosomal recessive genetic disorder characterized by sensorineural hearing loss and female gonadic eukaryotic dysgenesis. Here, we report the case of a 20-year-old female that presented to her internal medicine physician after suffering from secondary amenorrhea. After m...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2019/9865281 |
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| author | Leah May Roberts Bruce Carnivale |
| author_facet | Leah May Roberts Bruce Carnivale |
| author_sort | Leah May Roberts |
| collection | DOAJ |
| description | Perrault syndrome is a rare autosomal recessive genetic disorder characterized by sensorineural hearing loss and female gonadic eukaryotic dysgenesis. Here, we report the case of a 20-year-old female that presented to her internal medicine physician after suffering from secondary amenorrhea. After multiple negative pregnancy tests done with primary care physicians, a further evaluation by an internal medicine specialist showed an elevated FSH and LH as well as a small uterus and streak ovaries on transabdominal and transvaginal ultrasound. She was referred to the OB-GYN service, gonadal dysgenesis was diagnosed, and proper treatment was initiated. We intend to highlight this presentation of ovarian dysfunction and provide guidance for the proper diagnosis and management of the said disorder. |
| format | Article |
| id | doaj-art-27cf3650a0c64e618d773bf249c385d5 |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-27cf3650a0c64e618d773bf249c385d52025-02-03T01:10:20ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922019-01-01201910.1155/2019/98652819865281Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary AmenorrheaLeah May Roberts0Bruce Carnivale1Department of Obstetrics, Gynecology and Reproductive Sciences, Temple University Hospital, 3401 N Broad Street, Philadelphia, PA 19140, USADepartment of Obstetrics, Gynecology and Reproductive Sciences, Temple University Hospital, 3401 N Broad Street, Philadelphia, PA 19140, USAPerrault syndrome is a rare autosomal recessive genetic disorder characterized by sensorineural hearing loss and female gonadic eukaryotic dysgenesis. Here, we report the case of a 20-year-old female that presented to her internal medicine physician after suffering from secondary amenorrhea. After multiple negative pregnancy tests done with primary care physicians, a further evaluation by an internal medicine specialist showed an elevated FSH and LH as well as a small uterus and streak ovaries on transabdominal and transvaginal ultrasound. She was referred to the OB-GYN service, gonadal dysgenesis was diagnosed, and proper treatment was initiated. We intend to highlight this presentation of ovarian dysfunction and provide guidance for the proper diagnosis and management of the said disorder.http://dx.doi.org/10.1155/2019/9865281 |
| spellingShingle | Leah May Roberts Bruce Carnivale Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea Case Reports in Obstetrics and Gynecology |
| title | Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea |
| title_full | Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea |
| title_fullStr | Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea |
| title_full_unstemmed | Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea |
| title_short | Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea |
| title_sort | perrault syndrome diagnosis in a patient presenting to her primary care provider with secondary amenorrhea |
| url | http://dx.doi.org/10.1155/2019/9865281 |
| work_keys_str_mv | AT leahmayroberts perraultsyndromediagnosisinapatientpresentingtoherprimarycareproviderwithsecondaryamenorrhea AT brucecarnivale perraultsyndromediagnosisinapatientpresentingtoherprimarycareproviderwithsecondaryamenorrhea |