Endocrine Abstracts

We report the case of a 34-year-old woman with a personal history of type 1 diabetes mellitus (DM1) since she was 9 years old. Very poor chronic metabolic control stands out despite multiple insulin schemes with multiple complications: nephropathy, retinopathy and peripheral neuropathy. She was admitted to the hospitalization floor due to diabetic ketoacidosis. At admission Hba1c of 15.3%. During admission after treatment with IV insulin, improvement in glycemic control. Nine ...

Case history: We present a 61-year-old male with a background history of 47 XYY syndrome who was referred to the endocrine outpatient service with abnormal thyroid function tests. He has mild learning disabilities, asthma, action tremor, erectile dysfunction, and type 2 diabetes. He was tall in stature with obvious clinodactyly. He had been evaluated for his tremor by our Neurology colleagues. Investigations: His blood tests results were as follow- TSH 5...

Case history: We present a rare case of Langerhans cell histiocytosis (LCH) of pituitary stalk and hypothalamus in a 40 year old lady. She presented with 9 weeks history of a sudden onset of polyuria and polydipsia. She had extreme thirst even during night which led to significant nocturia and tiredness. She denied headache, blurring of vision, galactorrhoea or menstrual irregularity. She had no significant past medical history and was not on any medications. Physical examinat...

The intrinsic heterogeneity of endocrine-related cancers (ERCs) hampers the identification and development of global and effective therapeutic treatments for these pathologies. However, the dysregulation of the splicing process has been postulated as a new common hallmark shared by most cancer types, since it is associated with the appearance of splicing variants with oncogenic potential (e.g. CD44v6, BCL-Xs, AR-v7, SST5TMD4, In1-ghrelin...

Introduction: The capability of cancer to accommodate to special metabolic circumstances is a hallmark of it’s existence. Pheochromocytoma/paragangliomas (Pheo/PGL) are rare neuroendocrine tumors with strong and specific metabolic phenotype due to mutations of genes encoding succinate dehydrogenase (SDH) subunits. In this study our aim was to evaluate the expression of glutaminase-1 in hereditary Pheo/PGL tissues and to inhibit SDH activity via pharmacological treatments ...

Cushing’s disease tumours bear activating mutations in the ubiquitin-specific-protease 8 gene (USP8) gene in 40-60% of cases. We have previously observed that patients with USP8 mutant tumours have smaller tumour size and show a better response to high dose (8mg) dexamethasone stimulation test compared to those with wild type USP8 (1). The aim of this study was to define the role of USP8 on glucocorticoid receptor (GR) in corticotroph tumour cells. We did experim...

Introduction: Addison’s disease was first described in 1855 by Thomas Addison as a result of adrenal insufficiency. It is most common in females aged 30–50 years. Symptoms are often non specific.Weakness and weight loss are universal features of Addison’s disease. It can present to a dermatologist in different ways. We present a case of a young female who reported to dermatology outdoor with a typical melasma-like eruption over her face.Ca...

The term subclinical Cushing syndrome arose at the turn of the millennium with the description of large Italian study of adrenal incidentalomas. Of 1096 patients from 26 centres, 9.2% had ‘subclinical Cushing’s’ (JCEM, 2000; 85:637-644). Since then over 300 publications have detailed this newly discovered endocrine diagnosis, and herein lies the main issue. The definition of Cushing’s syndrome is not in doubt – a ‘constellation of symptoms and sig...

The presence of differentiated follicular thyroid cells in thyroid cancer is critical for the antitumor response to radioactive iodide treatment, and loss of the differentiated phenotype is a key hallmark of iodide-refractory metastatic disease. Thus, one of the objective of our laboratory is to study the signals and molecular mechanisms involved in thyroid differentiation in cancer. Among genes responsible of thyroid differentiated phenotype are the transcription factor PAX8 ...

Background: Klinefelter syndrome (KS) is the most frequent genetic cause of male infertility. Individuals share the endocrine hallmark of hypergonadotropic hypogonadism, displaying high gonadotropin levels due to deficient testicular function. A single-nucleotide polymorphism (SNP) located within the FSHB promoter region (−211G>T, rs10835638) was recently shown to be associated with reduced serum FSH levels and other reproductive parameters in men. The objec...