PGL4 syndrome in a patient with synchronous paraganglioma-pheochromocytoma.

Pheochromocytoma and paraganglioma (PGL) are rare neuroendocrine tumours, frequently associated with genetic syndromes. We report the case of a man in his 40s with a left anterior neck mass and a history of hypertensive crisis, heavy sweating and constipation. Biochemical tests showed increased plasma and urine normetanephrines.

Multifactorial diabetes insipidus during pregnancy: a challenging diagnosis.

Diabetes insipidus (DI) is characterised by thirst and polydipsia with hypotonic polyuria. Several forms exist, namely, central or pituitary, nephrogenic and gestational and must be differentiated for adequate treatment. We describe the case of a 41-year-old woman chronically infected with HIV who had been recently medicated with a tenofovir-based antiretroviral treatment and who, at 22 weeks of pregnancy, presented with transient gestational DI.

Thyroid tuberculosis: an unexpected diagnosis.

(MTB) is an aerobic bacillus responsible for tuberculous infection. The the thyroid gland being affected by MTB is a rare condition. A 71-year-old woman had 6 months of slight cervical discomfort.

Autosomal dominant hypocalcaemia: identification of two novel variants of gene.

Autosomal dominant hypocalcaemia is a rare aetiology of hypocalcaemia, caused by gain-of-function mutations of the calcium-sensing receptor () gene. We present two cases of two asymptomatic women (50-year-old-case 1 and 25-year-old-case 2), referred to our endocrinology department for investigation of hypocalcaemia, hyperphosphatemia and inappropriately low parathormone. Both patients had relatives with the same laboratorial findings.