Late diagnosis of pseudohypoparathyroidism in adulthood. Case series
Introduction: Pseudohypoparathyroidism (PHP) is a rare hereditary disease, characterized by hypocalcemia/hyperphosphatemia secondary to peripheral resistance to parathyroid hormone (PTH). PHP diagnosis is usually precluded since hypocalcemia is considered as the primary diagnosis, thus delaying furt...
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| Format: | Article |
| Language: | English |
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Universidad Nacional de Colombia
2018-10-01
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| Series: | Revista de la Facultad de Medicina |
| Subjects: | |
| Online Access: | https://revistas.unal.edu.co/index.php/revfacmed/article/view/66940 |
| _version_ | 1819231258483359744 |
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| author | Maria Camila Trejo Alejandro Roman-Gonzalez Sebastian Ruiz Catalina Tobón Pablo Castaño Clara Arango Carolina Prieto |
| author_facet | Maria Camila Trejo Alejandro Roman-Gonzalez Sebastian Ruiz Catalina Tobón Pablo Castaño Clara Arango Carolina Prieto |
| author_sort | Maria Camila Trejo |
| collection | DOAJ |
| description | Introduction: Pseudohypoparathyroidism (PHP) is a rare hereditary disease, characterized by hypocalcemia/hyperphosphatemia secondary to peripheral resistance to parathyroid hormone (PTH). PHP diagnosis is usually precluded since hypocalcemia is considered as the primary diagnosis, thus delaying further diagnostic studies and preventing an adequate management of this clinical condition.
Materials and methods: Retrospective review of the databases of the Endocrinology departments of two tertiary care centers of Medellin, Colombia from January 2012 to December 2016. Patients diagnosed with PHP based on clinical presentation and confirmatory laboratory values were included.
Results: Four patients met the inclusion criteria. All PHP cases were diagnosed in adulthood despite strong early clinical and laboratory evidence of the disease. Three patients were diagnosed with Fahr’s syndrome and two with Albright’s hereditary osteodystrophy. The mean values obtained were PTH of 376.8 pg/mL, calcium of
6.17 mg/dL and phosphorus of 6.55 mg/dL.
Conclusions: PHP is a rare disorder. This paper describes four PHP cases diagnosed during adulthood. Emphasis should be placed on the judicious approach to the patient with hypocalcemia and hyperphosphatemia with increased PTH and normal renal function, since these symptoms strongly suggest a diagnosis of PHP. |
| first_indexed | 2024-12-23T11:42:06Z |
| format | Article |
| id | doaj.art-4bae7416127044689c2855b54d4a061d |
| institution | Directory Open Access Journal |
| issn | 0120-0011 2357-3848 |
| language | English |
| last_indexed | 2024-12-23T11:42:06Z |
| publishDate | 2018-10-01 |
| publisher | Universidad Nacional de Colombia |
| record_format | Article |
| series | Revista de la Facultad de Medicina |
| spelling | doaj.art-4bae7416127044689c2855b54d4a061d2022-12-21T17:48:26ZengUniversidad Nacional de ColombiaRevista de la Facultad de Medicina0120-00112357-38482018-10-0166464364910.15446/revfacmed.v66n4.6694050068Late diagnosis of pseudohypoparathyroidism in adulthood. Case seriesMaria Camila Trejo0Alejandro Roman-Gonzalez1Sebastian Ruiz2Catalina Tobón3Pablo Castaño4Clara Arango5Carolina Prieto6Universidad de Antioquia - Faculty of Medicine - Department of Internal Medicine - Medellín - ColombiaUniversidad de Antioquia - Faculty of Medicine - Department of Internal Medicine - Medellín - Colombia Hospital Universitario San Vicente Fundación - Department of Endocrinology and Metabolism - Medellín - ColombiaUniversidad de Antioquia - Faculty of Medicine - Department of Internal Medicine - Medellín - ColombiaUniversidad de Antioquia - Faculty of Medicine - Department of Internal Medicine - Medellín - ColombiaUniversidad de Antioquia - Faculty of Medicine - Department of Internal Medicine - Medellín - ColombiaUniversidad de Antioquia - Faculty of Medicine - Department of Internal Medicine - Medellín - Colombia Hospital Pablo Tobón Uribe - Department of Endocrinology - Medellín - ColombiaHospital Pablo Tobón Uribe - Department of Endocrinology - Medellín - ColombiaIntroduction: Pseudohypoparathyroidism (PHP) is a rare hereditary disease, characterized by hypocalcemia/hyperphosphatemia secondary to peripheral resistance to parathyroid hormone (PTH). PHP diagnosis is usually precluded since hypocalcemia is considered as the primary diagnosis, thus delaying further diagnostic studies and preventing an adequate management of this clinical condition. Materials and methods: Retrospective review of the databases of the Endocrinology departments of two tertiary care centers of Medellin, Colombia from January 2012 to December 2016. Patients diagnosed with PHP based on clinical presentation and confirmatory laboratory values were included. Results: Four patients met the inclusion criteria. All PHP cases were diagnosed in adulthood despite strong early clinical and laboratory evidence of the disease. Three patients were diagnosed with Fahr’s syndrome and two with Albright’s hereditary osteodystrophy. The mean values obtained were PTH of 376.8 pg/mL, calcium of 6.17 mg/dL and phosphorus of 6.55 mg/dL. Conclusions: PHP is a rare disorder. This paper describes four PHP cases diagnosed during adulthood. Emphasis should be placed on the judicious approach to the patient with hypocalcemia and hyperphosphatemia with increased PTH and normal renal function, since these symptoms strongly suggest a diagnosis of PHP.https://revistas.unal.edu.co/index.php/revfacmed/article/view/66940PseudohypoparathyroidismParathyroid DiseasesHypocalcemiahyperphosphatemia |
| spellingShingle | Maria Camila Trejo Alejandro Roman-Gonzalez Sebastian Ruiz Catalina Tobón Pablo Castaño Clara Arango Carolina Prieto Late diagnosis of pseudohypoparathyroidism in adulthood. Case series Revista de la Facultad de Medicina Pseudohypoparathyroidism Parathyroid Diseases Hypocalcemia hyperphosphatemia |
| title | Late diagnosis of pseudohypoparathyroidism in adulthood. Case series |
| title_full | Late diagnosis of pseudohypoparathyroidism in adulthood. Case series |
| title_fullStr | Late diagnosis of pseudohypoparathyroidism in adulthood. Case series |
| title_full_unstemmed | Late diagnosis of pseudohypoparathyroidism in adulthood. Case series |
| title_short | Late diagnosis of pseudohypoparathyroidism in adulthood. Case series |
| title_sort | late diagnosis of pseudohypoparathyroidism in adulthood case series |
| topic | Pseudohypoparathyroidism Parathyroid Diseases Hypocalcemia hyperphosphatemia |
| url | https://revistas.unal.edu.co/index.php/revfacmed/article/view/66940 |
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