Endocrine Abstracts

Background: Infection with the human immunodeficiency virus (HIV) predisposes to endocrine disorders, manifesting as a metabolic phenotype that affects the entire adipose-musculoskeletal unit (AMS). The present cross-sectional study aimed to investigate differences in irisin and adiponectin concentrations between people living with HIV and healthy controls, as well as to explore potential correlations between the levels of the aforementioned adipokines and markers of calcium h...

Introduction: Immune mediated cases of severe insulin resistant diabetes are very rare. We report responses to immunosuppression with rituximab in two patients.Case 1: A 31 year old black African female, BMI 22.84 kg/m², was referred with new onset diabetes, diagnosed shortly following a miscarriage. She had weight loss, acanthosis nigricans, nocturnal hypoglycaemia and severe hyperandrogenism . She was on an insulin pump and required >1000 units in...

Introduction: Graves’ disease during pregnancy may cause maternal or neonatal complications, including arrhythmia, thyroid storm, congenital anomalies and neonatal thyroid dysfunction (TD). The optimal timing and frequency of TRAb measurement in pregnant women with a history of TD, and whether fetal monitoring could be limited to those with a strongly positive TRAb, is unclear.Methods: Retrospective case note review of women with elevated TRAb (>1 i...

Introduction: McCune-Albright syndrome (MAS) is a rare non-inheritable genetic disease. It is attributed to an early embryonic postzygotic somatic activating mutation of GNAS, leading to a mosaic that causes polyostotic fibrous dysplasia, café au lait macules and polyendocrinopathy.Aim: To present two cases of this rare syndrome.Case report: A 38-year-old male patient presented with a bone lesion of the forehead and acromegali...

Nonalcoholic fatty liver disease has an increased worldwide prevalence due to obesity and the use of various drugs affecting the liver. The pathogenesis of nonalcoholic fatty liver disease is presently not completely defined. In addition, there is a paucity of agents for its treatment. Choline deficiency has been shown to induce nonalcoholic liver disease. Systemic autoimmune rheumatic diseases require chronic systemic treatment with various agents, which may affect liver func...

Objectives: Neurofibromatosis type 1 (NF1) is an autosomal, dominant, genetic disorder. The genetic lesion in neurofibromatosis type 1 is located at locus 17q11.2 that harbors the neurofibromin gene. Patients have 3-4 times higher possibility to develop malignancies relative to the general population. The endocrine manifestations of neurofibromatosis include precocious puberty, short stature, osteoporosis and pheochromocytoma. We present a patient with neurofibromatosis type 1...

Background: CYP11A1 encodes the P450 side chain cleavage enzyme which initiates the steroidogenic cascade by conversion of cholesterol to pregnenolone. Severe (or classical) deficiency of this enzyme is characterised by disordered sexual differentiation in addition to adrenal and gonadal insufficiency. However partial loss-of-function mutations of CYP11A1 can present as isolated glucocorticoid deficiency (IGD). We describe 16 patients with both novel and know...

Background: An increasing number of mutations are associated with pheochromocytomas. Genetic screening is advocated in all cases and immunohistochemistry as well as phenotype profile recognition may permit a more targeted screening for specific genes.Case Presentation: A 54-year-old male presented with symptoms compatible with pheochromocytoma and increased levels of plasma normetanephrines, metanephrines and 3-methoxytyramine. On Computed Tomography, th...

Introduction: In the last decade, it has become clear that not only overt but also subclinical hypo- and hyperthyroidism are associated with several adverse clinical outcomes, including atrial fibrillation, coronary heart disease, stroke and mortality. More recently, various studies have suggested that even small differences in thyroid function within the reference range are associated with clinical consequences. Genetic factors are responsible for up to 58-71% of the variatio...

Background: Familial partial lipodystrophy (FPLD) is a rare syndrome in which a patient’s phenotype is not dependent merely on the specific genetic mutation, but also on a combination of other demographic, environmental and genetic factors. In this report, we present a large cohort of novel mutation in FPLD patients from a large referral center in Greece and we investigate the possible relationship between the genetic variations detected and their phenotype and the effect...