Suspicion of Frasier’s Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature
Axler Jean Paul,1 Dieuguens Louis,2 Ansly Jefferson Desravines,1 Raema Mimrod Jean,1 Alfadler Jean Baptiste,1 Jean Henold Buteau,2 Wislet Andre2 1General Medicine, State University Hospital of Haiti, Port-au-Prince, West, Haiti; 2Internal Medicine, State University Hospital of Haiti, Port-au-Prince,...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2021-08-01
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| Series: | International Medical Case Reports Journal |
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| Online Access: | https://www.dovepress.com/suspicion-of-frasiers-syndrome-in-the-nephrology-unit-of-the-state-uni-peer-reviewed-fulltext-article-IMCRJ |
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| author | Jean Paul A Louis D Desravines AJ Jean RM Jean Baptiste A Buteau JH Andre W |
| author_facet | Jean Paul A Louis D Desravines AJ Jean RM Jean Baptiste A Buteau JH Andre W |
| author_sort | Jean Paul A |
| collection | DOAJ |
| description | Axler Jean Paul,1 Dieuguens Louis,2 Ansly Jefferson Desravines,1 Raema Mimrod Jean,1 Alfadler Jean Baptiste,1 Jean Henold Buteau,2 Wislet Andre2 1General Medicine, State University Hospital of Haiti, Port-au-Prince, West, Haiti; 2Internal Medicine, State University Hospital of Haiti, Port-au-Prince, West, HaitiCorrespondence: Axler Jean Paul 79, Impasse Dady, Juvenat, Petionville, West, HaitiTel +509 37349648; +509 43776900Email jeanpaulaxler@hotmail.comObjective: Frasier syndrome is a rare genetic nephropathy characterized by the presence of progressive glomerulopathy with proteinuria associated with male pseudo hermaphroditism. This case study described a picture of a young boy where the clinical suspicion context reminded the Frasier syndrome. To our knowledge, this case is the first described in Haiti.Case Study: This is a 19-year-old young phenotypically male, born with a genital anomaly, was seen on referral at the nephrology/dialysis unit of the internal medicine department of the State University Hospital of Haiti for evaluation and follow-up. Insidious progression of symptoms had occurred over 3 years. Over three months of outpatient follow-up, he had four sets of renal labs drawn, and all showed impaired renal function. At the ultrasound, a bilateral cryptorchidism is described in the inguinal, and presence of functional ovaries with follicles of variable size scattered in the parenchyma. So, in the light of these anamnestic, clinical and paraclinical findings, we concluded to the diagnosis of end-stage renal failure by progressive glomerulopathy in a context of Frasier’s syndrome.Conclusion: With any clinical picture consisting of genital anomalies at birth, renal symptomatology during childhood and the diagnosis of renal failure during adolescence, rare genetic nephropathies, such as Frasier syndrome must be considered.Keywords: Frasier syndrome, end-stage renal failure, young, HUEH, Haiti |
| first_indexed | 2024-12-22T00:18:12Z |
| format | Article |
| id | doaj.art-f250e2f1f784482c9778aefdd000e554 |
| institution | Directory Open Access Journal |
| issn | 1179-142X |
| language | English |
| last_indexed | 2024-12-22T00:18:12Z |
| publishDate | 2021-08-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | International Medical Case Reports Journal |
| spelling | doaj.art-f250e2f1f784482c9778aefdd000e5542022-12-21T18:45:15ZengDove Medical PressInternational Medical Case Reports Journal1179-142X2021-08-01Volume 1453353867787Suspicion of Frasier’s Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of LiteratureJean Paul ALouis DDesravines AJJean RMJean Baptiste AButeau JHAndre WAxler Jean Paul,1 Dieuguens Louis,2 Ansly Jefferson Desravines,1 Raema Mimrod Jean,1 Alfadler Jean Baptiste,1 Jean Henold Buteau,2 Wislet Andre2 1General Medicine, State University Hospital of Haiti, Port-au-Prince, West, Haiti; 2Internal Medicine, State University Hospital of Haiti, Port-au-Prince, West, HaitiCorrespondence: Axler Jean Paul 79, Impasse Dady, Juvenat, Petionville, West, HaitiTel +509 37349648; +509 43776900Email jeanpaulaxler@hotmail.comObjective: Frasier syndrome is a rare genetic nephropathy characterized by the presence of progressive glomerulopathy with proteinuria associated with male pseudo hermaphroditism. This case study described a picture of a young boy where the clinical suspicion context reminded the Frasier syndrome. To our knowledge, this case is the first described in Haiti.Case Study: This is a 19-year-old young phenotypically male, born with a genital anomaly, was seen on referral at the nephrology/dialysis unit of the internal medicine department of the State University Hospital of Haiti for evaluation and follow-up. Insidious progression of symptoms had occurred over 3 years. Over three months of outpatient follow-up, he had four sets of renal labs drawn, and all showed impaired renal function. At the ultrasound, a bilateral cryptorchidism is described in the inguinal, and presence of functional ovaries with follicles of variable size scattered in the parenchyma. So, in the light of these anamnestic, clinical and paraclinical findings, we concluded to the diagnosis of end-stage renal failure by progressive glomerulopathy in a context of Frasier’s syndrome.Conclusion: With any clinical picture consisting of genital anomalies at birth, renal symptomatology during childhood and the diagnosis of renal failure during adolescence, rare genetic nephropathies, such as Frasier syndrome must be considered.Keywords: Frasier syndrome, end-stage renal failure, young, HUEH, Haitihttps://www.dovepress.com/suspicion-of-frasiers-syndrome-in-the-nephrology-unit-of-the-state-uni-peer-reviewed-fulltext-article-IMCRJfrasier syndromeend-stage renal failureyounghuehhaiti |
| spellingShingle | Jean Paul A Louis D Desravines AJ Jean RM Jean Baptiste A Buteau JH Andre W Suspicion of Frasier’s Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature International Medical Case Reports Journal frasier syndrome end-stage renal failure young hueh haiti |
| title | Suspicion of Frasier’s Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature |
| title_full | Suspicion of Frasier’s Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature |
| title_fullStr | Suspicion of Frasier’s Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature |
| title_full_unstemmed | Suspicion of Frasier’s Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature |
| title_short | Suspicion of Frasier’s Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature |
| title_sort | suspicion of frasier rsquo s syndrome in the nephrology unit of the state university hospital of haiti case study and review of literature |
| topic | frasier syndrome end-stage renal failure young hueh haiti |
| url | https://www.dovepress.com/suspicion-of-frasiers-syndrome-in-the-nephrology-unit-of-the-state-uni-peer-reviewed-fulltext-article-IMCRJ |
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