Endocrine Abstracts

The immune microenvironment plays a central but ambivalent role in tumourigenesis. During initial phases of neoplasia, both innate and adaptive immune cells recognize and destroy tumour cells. However, during the process of immunoediting, tumour cells progressively reshape the microenvironment and use immune cells to favour neoangiogenesis, tumour growth and metastasis. Until recently, the role of immune response in the pathogenesis of ACC had remained elusive. Analysis of the...

Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by obesity, retinopathy, cognitive abnormalities, and polydactyly and other congenital anomalies. Patients also have an increased incidence of hypertension and diabetes. Mutations in at least 14 genes have been reported to independently cause BBS. In order to better understand the pathophysiology of BBS, we have generated BBS mouse models and have investigated the interaction of the prote...

The adrenal cortex arises from the adrenogonadal primordium, which is also involved in the formation of the gonadal anlagen and is characterized by expression of the nuclear receptor Sf1. After individualisation, the adrenal primordium undergoes a series of developmental events that culminate with establishment of functional zonation, characterised by differentiation of zona glomerulosa and zona fasciculata. In the past 7 years, we have developed a number of mouse models recap...

Although, high doses of cyclosporine (cyclo)has been demonstrated to inhibit the development of type 1diabetes mellitus (T1D), its usefulness was limited by its toxicity. Since methotrexate (Mtx) and cyclo have been shown to synergistically act in other disease processes, we determined if low dose cyclo and Mtx therapy could inhibit the development of diabetes and reduce or eliminate the need for insulin therapy in a pilot study.Methods: Insulin dose and...

Background: The adrenal gland produces corticosteroids essential for hydromineral and metabolic homeostasis. It is organised, in mice, in two concentric layers. The zona glomerulosa (zG) and fasciculate (zF), renewed from progenitors located in the capsular periphery. Centripetal renewal and maintenance of cortical zonation are dependant of a balance between WNT/β-catenin and ACTH/PKA signalling pathways. They provide recruitment and consecutive differentiation of progeni...

Maturation of the definitive adrenal cortex occurs between 3 and 6 weeks post-partum and involves onset of CYP11B2 expression and establishment of the laminin-encased 3D structure of glomeruli that contain rosettes of 10 to 15 zona glomerulosa (zG) cells that work in coordination to produce optimal amounts of aldosterone. Although this process is dependent on canonical WNT/b-catenin signaling, cellular sources of WNT ligands remain elusive and the mechanisms involved in the ex...

Introduction: Patients with adrenal insufficiency (AI), continue to face many challenges including: dealing with symptoms and associated disorders; managing medication regimens; prevention and management of complications, and effective engagement and interactions with healthcare providers. In patients with AI, adrenal crisis (AC) continues to lead to unnecessary deaths. We illustrate how University Hospitals Birmingham NHS Foundation Trust used the 4E framework (En...

Introduction: We wanted to analyse the descriptive variables of a series of 1567 thyroidectomy patients between 2010 and 2013 and its association with malignancy in our series.Material and methods: Retrospective, multicentre study done by review of the medical records of 1567 patients who became thyroidectomy between 2010 and 2013 in eight sanitary areas. This is an analysis of clinical and demographic variables.Results: The percen...

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a rare, benign, autosomal dominant condition usually caused by heterozygous inactivating mutations in the gene encoding the calcium sensing receptor (CASR).Case: 22-year-old woman referred to endocrinology for suspected polycystic ovary syndrome. Hypercalcemia is detected. Laboratory tests showed persistent hypercalcemia with a serum total calcium of 11.1 mg/dl (8.8–10.2), phosphorus 2.8, i...

Background: One of the main drawbacks of primary treatment of Graves’ disease (GD) with thionamide drugs (TD) is the high relapse rate estimated to be 50–60%. Fear about side effects, specially agranulocitosis and hepatic complications, is other drawback of this treatment option.Objective: To evaluate the clinical and/or biochemical characteristics that might predict relapse in patients with GD treated with TD.Design and ...