Resumo

MENDES, Ana Rita; MELO, Gonçalo  e  DANTAS, Ana. A young man with hypocalcaemia: a brief report. Rev Port Med Geral Fam [online]. 2015, vol.31, n.3, pp.216-220. ISSN 2182-5173.

Introduction: The coexistence of two endocrine diseases is rare. Making the right diagnoses can be challenging. Case report: A 32 year-old man complained of difficulty in maintaining a sustained erection and mechanical low back pain in 2011. Those complaints were attributed to lumbar spinal stenosis with mixed neuropathy. Six months later he went to his family doctor with generalized paraesthesia. Supplementation with oral magnesium was started and hypocalcaemia was found. Ten days later due to exacerbation of his condition, he went to the emergency department of a local hospital and was admitted to an internal medicine ward for investigation of hypocalcaemia. He was discharged with the diagnosis of autoimmune thyroiditis with subclinical hypothyroidism and hypoparathyroidism. This raised the possibility of polyglandular autoimmune syndrome. Eight months later, he was admitted to the endocrinology ward with similar symptoms. The diagnoses of hypoparathyroidism and primary hypothyroidism were made but an autoimmune aetiology for hypoparathyroidism was ruled out. The results of genetic testing confirmed the existence of a polymorphism in the CASR gene. Comment: This case report shows that we cannot always fit signs and symptoms into the diagnosis of a single disease. Many diagnostic tests were necessary to make the right diagnosis in this case. Genetic testing confirmed the polymorphism of the CASR gene. This polymorphism results in amplification of function of the receptor that leads to the inhibition of PTH secretion and resorption of calcium with increased urinary excretion.

Palavras-chave : Hypoparathyroidism; Polyendocrinopathies, Autoimmune; Hypothyroidism.

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