Endocrine Abstracts

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...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder often diagnosed in asymptomatic individuals on routine biochemical screening, which, if left untreated, can have devastating consequences. The main target organs of PTH are the skeletal system and the kidneys. Asymptomatic hypercalcaemia in young adults is uncommon, and patients who remain asymptomatic should be monitored for the development of complications that justify surgery.<p class="abste...

Introduction: The prevalence of acromegaly is estimated to be 6-28/100000 but several studies suggest that acromegaly is underdiagnosed and its prevalence is underestimated.Aim: To measure the prevalence of clinically relevant acromegaly in a well-defined population using data from 01.04.2004 to 01.11.2016.Method: Cross-sectional study performed in 8 counties from the North-East Romania. Data of patients with acromegaly were collec...

Introduction: Addison’s disease is a rare disorder, described mainly in isolated cases. The two most common cause of primary adrenal insufficiency are autoimmune adrenalitis and adrenal tuberculosis, which is still the primary cause of primary adrenal insufficiency (PAI) in developing countries. Adrenal tuberculosis is difficult to diagnose, the classic presentation with non specific symptoms delay the diagnosis. In some cases, the background of tuberculosis and hyperpigm...