Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association
Background. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described. Case Presentation. We present the case of a boy with a neo...
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2021/6633541 |
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| author | Valeria Calcaterra Giulia Roberto Anna La Rocca Beatrice Andrenacci Federico Rossi Gian Vincenzo Zuccotti Valentina Fabiano |
| author_facet | Valeria Calcaterra Giulia Roberto Anna La Rocca Beatrice Andrenacci Federico Rossi Gian Vincenzo Zuccotti Valentina Fabiano |
| author_sort | Valeria Calcaterra |
| collection | DOAJ |
| description | Background. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described. Case Presentation. We present the case of a boy with a neonatal diagnosis of SW-CAH who showed low potassium blood levels from the age of 15 years. This electrolytic alteration was, at first, attributed to an excessive action of mineralocorticoid drugs. Due to persistence of hypokalemia, SLC12A3 whole genome sequencing was performed, showing a heterozygous C to T base pair substitution at position 965 in gene SLC12A3. This mutation is related to Gitelman syndrome with autosomal recessive transmission. Conclusions. SW-CAH and GS determine opposite values of potassium in the absence of specific therapy, with a natural tendency to compensate each other. The symptom overlap makes diagnosis difficult. Organic causes of hypokalemia in patients undergoing life-saving therapy should not be excluded. |
| format | Article |
| id | doaj-art-9b9569379e5a4a8ea5f3d9f8a159e419 |
| institution | OA Journals |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-9b9569379e5a4a8ea5f3d9f8a159e4192025-08-20T02:18:27ZengWileyCase Reports in Pediatrics2090-68032090-68112021-01-01202110.1155/2021/66335416633541Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon AssociationValeria Calcaterra0Giulia Roberto1Anna La Rocca2Beatrice Andrenacci3Federico Rossi4Gian Vincenzo Zuccotti5Valentina Fabiano6Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, 27100 Pavia, ItalyPediatric Unit, Fondazione IRCCS Policlinico S. Matteo and University of Pavia, 27100 Pavia, ItalyPediatric Unit, Fondazione IRCCS Policlinico S. Matteo and University of Pavia, 27100 Pavia, ItalyPediatric Unit, Fondazione IRCCS Policlinico S. Matteo and University of Pavia, 27100 Pavia, ItalyPediatric Unit, Fondazione IRCCS Policlinico S. Matteo and University of Pavia, 27100 Pavia, ItalyDepartment of Pediatrics, Children’s Hospital “V. Buzzi”, 20157 Milano, ItalyDepartment of Pediatrics, Children’s Hospital “V. Buzzi”, 20157 Milano, ItalyBackground. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described. Case Presentation. We present the case of a boy with a neonatal diagnosis of SW-CAH who showed low potassium blood levels from the age of 15 years. This electrolytic alteration was, at first, attributed to an excessive action of mineralocorticoid drugs. Due to persistence of hypokalemia, SLC12A3 whole genome sequencing was performed, showing a heterozygous C to T base pair substitution at position 965 in gene SLC12A3. This mutation is related to Gitelman syndrome with autosomal recessive transmission. Conclusions. SW-CAH and GS determine opposite values of potassium in the absence of specific therapy, with a natural tendency to compensate each other. The symptom overlap makes diagnosis difficult. Organic causes of hypokalemia in patients undergoing life-saving therapy should not be excluded.http://dx.doi.org/10.1155/2021/6633541 |
| spellingShingle | Valeria Calcaterra Giulia Roberto Anna La Rocca Beatrice Andrenacci Federico Rossi Gian Vincenzo Zuccotti Valentina Fabiano Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association Case Reports in Pediatrics |
| title | Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association |
| title_full | Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association |
| title_fullStr | Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association |
| title_full_unstemmed | Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association |
| title_short | Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association |
| title_sort | congenital adrenal hyperplasia cah and gitelman syndrome gs overlapping symptoms in an uncommon association |
| url | http://dx.doi.org/10.1155/2021/6633541 |
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