Endocrine Abstracts

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominantly inherited condition predisposing to primary hyperparathyroidism (PHPT), pituitary tumors, gastroenteropancreatic tract neuroendocrine tumors (NET), thymic tumours and skin lesions. Clinical features are rare in the paediatric population and guidance exists on the screening for complications of MEN1.Objective: To describe clinical features and treatment outcomes in a sin...

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...