Endocrine Abstracts

Introduction: Currently, type 1 diabetes (T1D) is defined by the autoimmune destruction of the pancreatic β cells that culminates in dependence on exogenous insulin, typically 1–3 years after diagnosis. This ability to maintain a residual function of pancreatic β cells is, however, heterogeneous, appearing to be worst if the disease is early diagnosed. Recently, it was demonstrated that many type 1 diabetic patients produce small amounts of insulin decades after...

Introduction: Barakat syndrome is a very rare disease and an uncommon aetiology of hypocalcaemia. Also known as HDR syndrome it is an autosomal dominant disorder characterised by hypoparathyroidism, sensorineural deafness and renal disease.Clinical case: A 59-year-old Caucasian woman was admitted to our Endocrinology ward in May 2014 due to hypocalcaemia despite being medicated with oral calcium. At 35 years old a diagnosis of hypoparathyroidism was esta...

Introduction: β-cell function declines progressively in patients with type 2 diabetes (T2D). the fasting C-peptide/glucose ratio (Cp/G) is used for its evaluation. The GLP1 receptor agonist liraglutide improves glucose and weight control, presumably due to improvement of β-cell function and/or mass. This study evaluates the effect of a 6-months’ treatment with liraglutide in β-cell function, measured by Cp/G, in patients with obesity and T2D.<p class="a...

Introduction: Sheehan’s syndrome (SS) is a cause of partial or total hypopituitarism that occurs after postpartum pituitary infarction, in the context of serious bleeding and/or hypotension. With the advancement of obstetric care, it has become a rare disease in developed countries, but its prevalence may be underestimated. Clinical presentation is dependent on the severity of hormonal deficits, is often nonspecific and many women may be asymptomatic for years. These reas...

Introduction: Leydig cell tumors are the most common testicular sex cord stromal tumors. The most frequent clinical presentation is a testicular mass. However, they can present with endocrine manifestations, and gynecomastia is the most common presentation. Hyperprolactinemia can cause hypogonadotropic hypogonadism, and in males, is also a cause of gynecomastia.Clinical case: A 24-years-old male was referred to our Endocrinology Department due to hyperpr...

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...

Introduction: Cushing’s syndrome results from increased or aberrant expression of ACTH, CHR, or neuroendocrine receptors that leads to uncontrolled hypersecretion of cortisol. The most common cause is ACTH-secreting pituitary adenomas. Alternatively, the glucocorticoid excess may be due to adrenal neoplasia or to ectopic ACTH – secreting tumors. There are rare reports of patients with a meningioma secreting CRH presenting paraneoplasic Cushing’s syndrome.<p ...

The aim of the study was to assess lipid status in subjects with hypothyroidism (overt and subclinical) and hyperthyroidism. Therefore, we analyzed the relationship between the levels of blood lipids (Lp(a), Apo AI, Apo B, Apo AI/B, total cholesterol (TC), triglyceride (TG), LDL, HDL, LDL) and TSH, FT4, T3, TPOAb concentration. The study groups included 38 subjects with overt hypothyroidism (mean±S.E.M., age 48.6±13.25 years), 30 ...

Introduction: It is known that fasting causes several physiological changes in the endocrine pancreas, such as insulin secretion, pancreatic islet metabolism and beta cells redox state. However, there is still no consensus about the effects of intermittent fasting (IF), a fad diet widespread by the media and adopted by individuals seeking rapid weight loss. In the present study, we sought to study the effects of the IF diet for three months in an animal model.<p class="abs...

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. Known genetic causes account for up to 30% of patients with KS, with FGFR1 mutations being identified in 10%. FGFR1-related KS has an autosomal dominant inheritance with incomplete penetrance. We present a family with KS due to a novel variably penetrant FGFR1 mutation, where the presenting features included cleft lip/palate and anosmia...