Endocrine Abstracts

Background: Gestational diabetes mellitus (GDM) is a risk factor for type 2 diabetes and both conditions are characterized by insulin resistance (IR) and decreased insulin production by pancreatic beta-cells. FNDC5 gene encodes a type I membrane protein that is proteolytically processed to form a hormone secreted into the blood, termed irisin. After induction by exercise, irisin activates profound changes in the subcutaneous adipose tissue, stimulating browning and UCP1 gene e...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant condition characterized by varying combinations of endocrine tumors and commonly accompanying hyperplasia within the parathyroid gland, anterior pituitary and gastrointestinal tract. Heterozygous germline mutation of the tumor suppressor gene MEN1 is the most common cause of the disease. Molecular genetic testing of menin gene, in which mutation is known to cause MEN1 syndrome, detects pathogenic...

Introduction: Obesity is associated to a pro-inflammatory state with a different pattern of response from the classical response. Also, obesity is associated to non-alcoholic fatty liver disease (NAFLD). In this sense, natural killer T (NKT) cells are a subset of innate immune cells that abundantly reside within the liver and are readily activated by lipid antigens. However, the phenotype and functional characteristics of these cells are no clear in the immune homeostasis in o...

Background: Congenital isolated ACTH deficiency (IAD) is a rare condition characterised by low plasma ACTH and serum cortisol with normal production of other pituitary hormones. TBX19 is a T-box pituitary restricted transcription factor important for POMC gene transcription and terminal differentiation of POMC-expressing cells. TBX19 gene mutations have been shown to cause neonatal-onset congenital IAD. To date 25 mutations in TBX19 have been described, five ...

Familial hypocalciuric hypercalcaemia (FHH) is a rare autosomal dominant condition due to a mutation in the calcium-sensing receptor gene (CaSR). The CaSR is located on chromosome 3 and mutations are commonly heterozygote mutations causing loss of function. Heterozygote mutations demonstrate benign disease with mild, asymptomatic hypercalcaemia. Homozygous mutations in the CaSR usually present with neonatal severe hyperparathyroidism (NSHPT) in the first few weeks of life and ...

Medullary thyroid carcinoma (MTC) accounts for ~5–10% of thyroid cancers. Intense efforts are currently directed toward the identification of new druggable targets for the treatment of MTC. The aim of this study was to investigate whether drugs acting at voltage-gated T-type calcium channels could affect hormone release and/or cell proliferation in a MTC cell line, the TT cells. The expression of the three isoforms of T-type calcium channels (CaV3.1, CaV3.2 and CaV3.3) wa...

Introduction: The Carney-Stratakis syndrome (CSS) is an inherited condition caused by germline mutations in succinate dehydrogenase (SDH) subunits B, C or D that predispose to gastric stromal tumors (GIST) and multicentric paragangliomas (PGL). SDH acts as a tumor suppressor gene, and enzyme activity reduction is known to be oncogenic. Since 2002 there has been some scarce reports. We present a new case of CSS associated with a germline unknown significance mutation in exon 4 ...

Prolactin is expressed in lymphoid cells and differentiating (decidualised) endometrial stromal cells (ESCs) under the control of an alternative upstream promoter, distinct from the pituitary-specific promoter. Local prolactin action may have immunomodulatory effects. Th1/Th2 imbalance may be an important cause of habitual abortions in man but the mechanism is unknown. Recently, we characterised a G/T SNP at position -1149 that altered prolactin production by lymphocytes, and ...

Introduction: T-Coach program is a phone support platform for patients with type 2 diabetes (T2D) treated with insulin glargine 300 U/ml in order to adjust basal insulin dose, reinforce diabetes education and encourage patients to get their goals through regular phone calls. The aim of the study was to evaluate T-Coach program effectiveness in metabolic control and level of satisfaction in patients with T2D.Methods: We conducted a retrospe...

With treatment of endocrine myopathies increased proximal muscle strength is generally attributed to increased bulk. However in hypothyroid myopathy individuals have been shown to increase strength despite reduction in bulk.We studied 25 hyperthyroid and 27 hypothyroid randomly selected patients, measuring body weight, quadriceps and deltoid force using strain gauge techniques or with a myometer. Cross sectional area (CSA) of the quadriceps and Right de...