Endocrine Abstracts

Introduction: We describe a novel case of familial congenital aniridia in a Caucasian woman with associated insulin requiring diabetes mellitus. This human combination has been described in Asian families in association with a heterozygous Paired Box 6 (PAX6) mutation (1) with subsequent evidence supporting that the mutation in this transcription factor causes decreased Proconvertase 1/3 function in the pancreas and a high proinsulin to insulin ratio (2). Our case does not hav...

Introduction: After binding its ligand, a conformational change in estrogen receptor alpha (ERα) occurs, leading to subsequent homodimerization of two monomeric ERs. The dimer then binds to specific DNA-elements or to other transcription factors already bound on gene promoters to regulate target gene expression. Protein-fragment complementation assays in general are simple tools to monitor protein–protein interactions and are useful to visualize the subcellular sites...

Older population and people with type II diabetes have a significantly higher rate of decline in cognitive function. However, the mechanisms are poorly understood. There are strong links between insulin and cognitive function supported by epidemiological data from humans and animal studies and in vitro research. Protein kinase C (PKC) signaling cascades and insulin pathways are closely integrated. The consequences of PKC activation by insulin in the CNS influence memory...

We report a case of Cushing’s disease associated to nephrotic syndrome. A 21-year old female was admitted to Cittadella-Hospital due to recent occurrence of weight gain, acne, hirsutism, amenorrhea and mild hypertension. Physical examination revealed truncal obesity, moon face, buffalo hump and a bilateral ankle edema. Suspected hypercortisolism was confirmed by elevated 24 h urinary cortisol (385 μg/24 h, normal range 32–250 μg/24 h) and failure to suppres...

Introduction: High prolactin levels may have several etiologies including the presence of a prolactin producing pituitary adenoma or the treatment with drugs of different classes. Certain physiological states, from which pregnancy stands out, are also characterized by elevated levels of prolactin.Case: Woman, 28 years old, with no relevant medical history or chronic medication apart from oral contraceptives, begins with amenorrhea in May 2010, without ga...

A 22-year old female diagnosed with thyrotoxicosis with raised free thryroxine (16.8 pmol/l) and suppressed thyroid-stimulating-hormone (TSH<0.03 mIU/l). She was started on Carbimazole 20 mg during end of August 2011. A fortnight later she presented with nausea, vomiting, fever and rigors. Her renal functions were deranged with a creatinine of 704 μmol/l, which worsened over the next 48 h. She subsequently needed renal replacement therapy with haemodialysis. She was c...

Introduction: The combination of two or more, autoimmune, endocrine dysfunctions defines the presence of polyglandular syndromes.Case report: Female patient, 43 years old, history of type 1 diabetes for 23 years and autoimmune hypothyroidism for 7 years, with no other relevant clinical history and without family history of autoimmune endocrinopathies. She was under therapy with insulin and levothyroxine. She came into the Endocrinology Department in May ...

Background: National osteoporosis guideline group recommend routine measurement of thyroid function tests. However it is well recognised that abnormal thyroid function tests done during acute hospital stays is not always suggestive of thyroid dysfunction and that they need to be repeated to determine the need for further management.Aim: To identify and assess the follow up of thyroid function tests (TFTs) done between June 2009 and Feb 2010 in the orthop...

Introduction: Adrenal incidentalomas are a common reason for endocrinology referral. We present a case of an incidentally discovered adrenal mass biochemically mimicking phaeochromocytoma with rapid resolution on subsequent imaging.Case report: A 53-year-old female was found to have a 5 cm mass adjacent to the right kidney on ultrasound performed to investigate abnormal liver function tests. CT confirmed a right adrenal mass. The patient was normotensive...

Insulin resistance is associated with obesity, metabolic syndrome and hypertension. These risk factors for type 2 diabetes and cardiovascular disease may be programmed by the early diet. Previous studies have shown poor insulin sensitivity in obese relative to lean sheep. Here, we considered whether insulin sensitivity in pre- and postnatally nutritionally challenged sheep offspring was due to changes at the pancreatic level. Thirty-six twin-bearing ewes were randomly allocate...