Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea

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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Main Authors: Leah May Roberts, Bruce Carnivale
Format: Article
Language:English
Published: Hindawi Limited 2019-01-01
Series:Case Reports in Obstetrics and Gynecology
Online Access:http://dx.doi.org/10.1155/2019/9865281
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spelling doaj-27cf3650a0c64e618d773bf249c385d52020-11-24T20:56:10ZengHindawi LimitedCase 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
collection DOAJ
language English
format Article
sources DOAJ
author Leah May Roberts
Bruce Carnivale
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
author_facet Leah May Roberts
Bruce Carnivale
author_sort Leah May Roberts
title 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_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_sort perrault syndrome diagnosis in a patient presenting to her primary care provider with secondary amenorrhea
publisher Hindawi Limited
series Case Reports in Obstetrics and Gynecology
issn 2090-6684
2090-6692
publishDate 2019-01-01
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.
url http://dx.doi.org/10.1155/2019/9865281
work_keys_str_mv AT leahmayroberts perraultsyndromediagnosisinapatientpresentingtoherprimarycareproviderwithsecondaryamenorrhea
AT brucecarnivale perraultsyndromediagnosisinapatientpresentingtoherprimarycareproviderwithsecondaryamenorrhea
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