Endocrine Abstracts

Objective: To evaluate the prevalence of the RET mutation and the genotype–phenotype relation in Saudi patients (families) with multiple endocrine neoplasia type 2A (MEN2A) or familial medullary thyroid carcinoma (FMTC).Design: Cross-sectional study.Patients and methods: A total of ten unrelated Saudi families with germline mutation of the RET protooncogene and/or immunohistochemistry diagnosis of MTC were identified. B...

Increased mortality due to atherosclerotic cardiovascular disease has been described in adult patients with hypopituitarism, although the precise underlying mechanisms remain undetermined. Various abnormalities of coagulation and fibrinolysis occur in patients with thyroid diseases. Conversely, there are conflicting reports concerning the effects of growth hormone replacement on coagulation and fibrinolytic pathways in adults with hypopituitarism, and there are limited data on...

Introduction: Many Muslim patients with diabetes observe dawn to dusk fasting during the month of Ramadan. In an observational prospective study, we have used continuous glucose monitoring system (CGMS) to investigate the changes in glucose profiles amongst Muslim patients during Ramadan fasting.Methods: CGMS was applied to patients with type 2 diabetes mellitus (n=14) attending AlZahra Hospital Sharjah for three consecutive days, before (non-fast...

Introduction: Prevalence of diabetes mellitus (DM) in the UAE is around 20% amongst adults. Lifestyle including meal timings are different from the West and may necessitate different treatment schedules. We have used continuous glucose monitoring (CGMS) to look at glycemic patterns in patients with type 1 and type 2 diabetes in the UAE.Methods: Available CGMS data (using methods previously described) on forty-four patients (thirty-one with type 2 DM and ...

Background: Primary adrenal insufficiency (PAI) is a rare, genetically heterogenous condition, characterised by hypocortisolaemia and high plasma ACTH levels in the presence or absence of mineralocorticoid deficiency. PAI can be life-threatening if unrecognised, misdiagnosed or under/untreated. Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive form of PAI characterised by isolated glucocorticoid insufficiency. Mutations in the MC2R/ACTH receptor, ...

Introduction: Metabolic syndrome (MetS) is correlated with increased cardiovascular risk and characterized by several factors, including visceral obesity, hypertension, dyslipidemia, and insulin resistance. Several members of a large family of nonselective cation channels, e.g., transient receptor potential (TRP) channels, have been associated with the development of cardiovascular diseases. Thus, changes of TRP channel expression may account for the observed increased cardiov...

Introduction: Autoimmune thyroid diseases result from a dysregulation of the immune system leading to an immune attack on the thyroid. Autoimmune thyroid diseases, which include Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), are characterised by lymphocytic infiltration of the thyroid parenchyma. The mechanisms that trigger the autoimmune attack to the thyroid are not entirely known. The aim of this study was to investigate the possible contribution of Rho/Rh...

Introduction: Diabetes is associated with increased fracture risk both in patients with type 1 (T1D) and type 2 diabetes (T2D) despite differences in bone mineral density BMD (decreased in T1D and increased in T2D). In T2D, insulin resistance (IR) is selective, with some insulin signaling pathways impaired, while others are overactive due to hyperinsulinemia. It is not clear how different insulin signaling pathways might contribute to the bone phenotypes observed in diabetes. ...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by unresponsiveness to ACTH and isolated cortisol deficiency. FGD is caused by mutations in genes encoding the ACTH receptor (melanocortin 2 receptor (MC2R)), its accessory protein (MRAP) or the steroidogenic acute regulatory protein (StAR). One significant feature is generalized skin hyperpigmentation which is thought to be due to elevated ACTH acting on the melanocortin 1 receptor (...

Introduction: The evidence shows that the prevalence of metabolic syndrome is increased in patients with hypogonadism. However, much of the data regarding this association comes from the elderly patients with obesity, hypertension or type 2 diabetes. The total testosterone levels alter physiologically in these conditions and thus can falsify the association. We aimed to investigate the prevalence of the metabolic syndrome in young adults with hypogonadism who do not have any c...