Author: "Santiago Tofe Povedano" / Journal: endocrine abstracts - Searchworks@Jio Institute Digital Library Search Results

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Start Over Author "Santiago Tofe Povedano" Journal endocrine abstracts

Author: Jose Vicente Gil Boix, Guillermo Serra Soler, Javier Bodoque Cubas, Meritxell Vines Raczkowski, Alicia Sanmartin Sanchez, Andreu Campos Peris, Mercedes Noval Font, Santiago Tofe Povedano, and Inaki Arguelles Jimenez
Subjects: General Medicine
Published: 2023
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Author: Antonia Barcelo Bennasar, Mercedes Noval Font, Cristina Alvarez Segurola, Elena Mena Ribas, Juan Manuel Martinez Ruitort, Inaki Arguelles Jimenez, Vicente Pereg Macazaga, Santiago Tofe Povedano, Carlos Antich Barcelo, Guillermo Serra Soler, and Ana Jimenez Portilla
Subjects: medicine.medical_specialty, Primary aldosteronism, business.industry, medicine, Adrenal vein sampling, Diagnostic test, Gold standard (test), Radiology, medicine.disease, business, Subtyping
Published: 2018
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Author: Elena Mena Ribas, Vicente Pereg Macazaga, Santiago Tofe Povedano, Carlos Antich Barcelo, Guillermo Serra Soler, Mercedes Noval Font, and Ana Jimenez Portilla
Subjects: business.industry, Testicular Disorder, Male hypogonadism, Medicine, Physiology, business
Published: 2018
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Author: Maria Cabrer Vidal, Guillermo Serra Soler, Marzena Wos, Maria Soledad Gogorza Perez, Inaki Arguelles Jimenez, Santiago Tofe Povedano, Elena Mena Ribas, Honorato Garcia Fernandez, and Vicente Pereg Macazaga
Subjects: Autoimmune disease, Pediatrics, medicine.medical_specialty, Genetic syndromes, business.industry, Medicine, Chromosome, Deletion syndrome, Disease, business, medicine.disease, New diagnosis, Primary Hypoparathyroidism
Abstract: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age. Learning points It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery.A new diagnosis of a hereditary disease has familial implications and needs genetic counselling.It is also important to discard other syndrome's comorbidities.
Published: 2015
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