Endocrine Abstracts

Introduction: Glycogenosis is a group of hereditary diseases affecting the glycogen metabolism, due to mutations in enzymes involved in the transformation and synthesis of glucose (liver and muscle glycogenosis). Brain germ tumors are very infrequent. They are located mainly in pineal and sellar region. Central diabetes insipidus is the most frequent manifestation. Their prognosis and response to combined chemo/radiotherapy treatment are favorable.Case r...

Introduction: The association of fasting glucose (FG) in early pregnancy (EP) with adverse outcomes for the mother and her offspring is well known, although the best cut-offs for diagnosis of Gestational Diabetes (GD) are not consensual.Objetive: Evaluate the impact of FG in EP in the management of pregnant women and obstetric and fetal outcomes.Methods: Retrospective cohort of pregnant women with GD diagnosed before 24 weeks of ge...

Introduction: Due to the growing prevalence of obesity, more women are overweight in early pregnancy, leading to adverse neonatal and obstetric outcomes.Objective: To evaluate the influence of maternal prepregnancy body mass index (BMI) on blood glucose levels at diagnosis of gestational diabetes (GD), obstetric and neonatal outcomes.Methods: Retrospective observational study including women with GD and singleton pregnancy, with fo...

Introduction: Patients with germline mutations in one of the succinate dehydrogenase (SDH) genes are at substantially increased risk of developing paragangliomas (PGL) and pheochromocytomas (PCC). Mutations in SDHB are the most commonly found gene mutations in PC/PGL and are associated with younger ages at presentation, higher rates of metastases and poorer prognosis. Although familial PGL syndromes were initially thought to predispose only for PCC and PGL, other tumor types s...

The emergence of a new generation of long-acting insulin analogues (insulin degludec -ID- and insulin glargine 300 U/ml -IG300-) has increased treatment options in type 1 diabetes (T1D), demonstrating in clinical trials better metabolic control with lower hypoglycemia rates.Objectives: To assess characteristics of T1D patients who were given ID and IG300 in clinical practice and to evaluate their effect on metabolic control, weight, insulin dose and hypo...

Introduction: DNA methylation is one of the epigenetic mechanisms existing to regulate gene expression. It is believed that methylation of DNA is susceptible of change by environmental and nutritional factors. Thus, epigenetics provides a mechanism which may explain the etiology of some metabolic disorders and obesity.Aim: The aim of this study is to analyze the DNA methylation level of several lipoprotein lipase (LPL)-promoter-CpG island in human viscer...

Objectives: To study for the first time the differences in monocyte/macrophage infiltration, inflammation and adipogenesis in the subcutaneous and visceral adipose tissues of normal-weight subjects who differed in their degree of metabolic syndrome.Methods: The study included 92 normal-weight subjects who differed in their degree of metabolic syndrome. Anthropometric and biochemical parameters were measured. RNA from subcutaneous and visceral adipose tis...

Pituitary ACTH-secreting tumour presents with variety of clinical features: normal cortisol secretion and ACTH-immunopositive staining and mild hypercortisolism without typical features of Cushing’s disease. We present a 53-year-old male with history of hypertension. First visit (2005): visual loss, bitemporal hemianopsia in campimetry and in MRI pituitary adenoma (2.5 cm) invading cavernous sinus and suprasellar cister. Hormonal study supported panhypopituitarism. After ...

Introduction: Oncocytomas are tumours composed by oncocytes, cells with granular and eosinophilic cytoplasm filled with mitochondria. It is a neoplasm that can arise in several organs (more commonly described in the kidney, salivary gland and thyroid). Oncocytoma arising in the adrenal gland is a rare finding. Most of them are benign and non-functioning and are detected incidentally. However, functional adrenal oncocytomas presenting as Cushing’s syndrome and phaeochromoc...

Parathyroid carcinoma is a rare cause of primary hyperparathyroidism. Clinical suspicion is determined by the severity of hyperparathyroidism associated or not with palpable cervical tumor and local invasion when surgery.Case report: A 45-year-old woman without any previous history of kidney stones or fractures. Admitted to hospital because of high hypercalcemia (calcium 15.1 mg/dl), fatigue and generalized arthralgia. Physical examination revealed right...