Endocrine Abstracts

Introduction: Congenital generalized lipodystrophy (CGL) is a heterogeneous, rare, monogenic condition, characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis, hepatomegaly and impaired lipid metabolism. Four types have been identified, caused by mutations in AGPAT2, BSCL2, CAV1 and, PTRF, respectively. Mutations in PTRF cause CGL type 4, characterized by muscular dystrophy, myopathy, cervical spine instability,...

Introduction: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations of the calcium sensing receptor (CaSR). Symptomatology ranges from asymptomatic hypocalcaemia to paraesthesia, tetani, laringospasm and, seizures. This is the first report of congenital hyperinsulinism (CHI) in a child with ADH.Case report: A female infant, born at term from non-consanguineous parents, presented on D2 with persistent asymptomatic hypoglycaemia requirin...

Background: Optimal glucose management in older people is currently unclear. Recent guidelines recommend avoiding tight glycemic targets in elderly patients with comorbidities because intensive control is unlikely to achieve benefit and they are at higher risk of hypoglycaemia.Objective: To estimate the prevalence of potential overtreatment in older adults with diabetes mellitus and comorbidities.Design: Cross-sectional study.<...

Background: Poorer control of risk factors for cardiovascular disease (cvd) has been reported in diabetic women compared with men.Objective: To investigate whether control of diabetes and risk factors for cvd differ between sexes in a cohort of diabetic patients monitored at an outpatient endocrinology clinic from 2004 till 2014.Design: Observational, retrospective cohort study.Patients and methods: A cohort ...

Background: Although unilateral primary aldosteronism (PA) is the most common surgically correctable cause of hypertension, no standard criteria exist to classify surgical outcomes. The Primary Aldosteronism Surgical Outcome (PASO) study was an international project to develop consensus criteria for outcomes and follow-up of adrenalectomy for unilateral PA.Objetives: To determine the proportions of patients achieving complete, partial, or absent clinical...