Endocrine Abstracts

Primary hypophysitis is a rare inflammatory condition which is mostly encountered in women. It represents 0.2–0.8% of pituitary pathologies and its annual incidence is estimated at 1 case per 9 million inhabitants. We present the case of a 28-year-old male, smoker, with sudden onset decreased libido, polyuria and polydipsia. At presentation he had an epicranial lipoma with and no other suggestive clinical signs. Biochemistry revealed hypernatremia 146 nmol/L, low testoste...

Introduction: 48, XXYY is a rare sex chromosome aneuploidy, being estimated to occur in 1:18000–1:40000 male births. Phenotypically it was considered a variant of Klinefelter syndrome (47,XXY), but currently, due to mental deficiency and behavioural characteristics associated, it’s considered to be a separated genetic condition.Case report: We report a case of a 8-year-old boy, first child of a young non-consanguineous couple, born at term. Due...

We present the case of a 75-year-old woman with a 10-year history of nephrolithiasis, for which she endured several sessions of extracorporeal shockwave lithotripsy (ESWL). She was directed to the Endocrinology unit for further investigations, due to persistent albeit minor increased values of blood calcium (10.48 mg/dl, normal 8.4–10.2 mg/dl). Here, the clinical supposition of primary hyperparathyroidism was confirmed. The tests revealed a mild hypercalcemia with hypopho...