Diagnosis and Treatment > Investigation > CA125
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Maria Cabrer
Maria Cabrer
Endocrine Unit, Hospital Comarcal d’Inca, Inca, Spain
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Guillermo Serra
Guillermo Serra
Endocrine Unit, Hospital Universitari Son Espases, Palma, Spain
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María Soledad Gogorza
María Soledad Gogorza
Endocrine Unit, Hospital Universitari Son Espases, Palma, Spain
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Vicente Pereg
Vicente Pereg
Endocrine Unit, Hospital Universitari Son Espases, Palma, Spain
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Summary
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:
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It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery.
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A new diagnosis of a hereditary disease has familial implications and needs genetic counselling.
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It is also important to discard other syndrome’s comorbidities.
