Endocrine Abstracts

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...

Adrenocortical Carcinoma (ACC) is an aggressive malignancy with poor response to chemotherapy. Here we evaluated a potential new treatment target for ACC, focusing on the mitochondrial NADPH generator Nicotinamide Nucleotide Transhydrogenase (NNT). NNT has a central role within the mitochondrial antioxidant pathways, protecting cells from oxidative stress. Inactivating NNT mutations lead to isolated primary adrenal insufficiency, suggesting a selective vulnerability of adrenoc...

Adrenocortical Carcinoma (ACC) is an aggressive malignancy with poor response to chemotherapy. Here we evaluated a potential new treatment target for ACC, focusing on the mitochondrial NADPH generator Nicotinamide Nucleotide Transhydrogenase (NNT). NNT has a central role within the mitochondrial antioxidant pathways, protecting cells from oxidative stress. Inactivating NNT mutations lead to isolated primary adrenal insufficiency, suggesting a selective vulnerability of adrenoc...

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis rendering their prognosis uncertain. We investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome....

Adrenocortical Carcinoma (ACC) is an aggressive malignancy with poor response to chemotherapy. Here we evaluated a potential new treatment target for ACC, focusing on the mitochondrial NADPH generator Nicotinamide Nucleotide Transhydrogenase (NNT). NNT has a central role within mitochondrial antioxidant pathways, protecting cells from oxidative stress. Inactivating human NNT mutations result in congenital adrenal insufficiency. We hypothesized NNT silencing in ACC cells will i...