Endocrine Abstracts

Aim: One of the hallmarks of type 2 diabetes (T2D) is impaired beta cell function, which develops in part as a result of widespread cellular de-differentiation. The current state-of-the-art defines beta cells as a heterogeneous islet population, with the existence of individual subpopulations including specialised ‘pacemakers’. We sought here to understand how overexpression-induced beta cell maturity affects such heterogeneity, befo...

Introduction: X-linked hypophosphatemic rickets (XLH) is a very rare cause of growth deficiency that can be diagnosed even in adulthood. The mutation of the PHEX gene in these patients causes higher levels of FGF-23 and hypophosphatemia.Case presentation: A 20-year-old male patient was admitted into our clinic due to short stature, walking difficulties, joint and muscle pain, predominantly in the lower limbs. He described the presence of symptoms since c...

Background: Metabolic syndrome (MetS) represents a huge public health problem worldwide, being associated with an increased risk of cardiovascular and oncological diseases, and all-cause mortality. There is compelling evidence supporting a key role of dysfunctional autonomic nervous system (ANS) in such an association as well as the mutual correlation between the components of MetS. Autonomic Nervous System Index (ANSI) is a percent ranked (0–100) unitary proxy of cardiac...

False elevation of estradiol(E2) due to immunoassay interference is a rare but important phenomenon reported in the literature. It is most commonly related to cross-reactivity(CR) from drugs sharing structural similarity with E2, namely fulvestrant and exemestane. These laboratory interferences(LI) can lead to unnecessary investigation/inappropriate treatments. Therefore, in such instances, a more selective and sensitive method is required. We present the case of a young femal...

Introduction: Oestrogens and androgens modulate the effects of growth hormone (GH). Sex differences have been described in acromegaly, with conflicting results in different populations. Additionally, data on sex differences in tumour histopathology are scarce.Aims: To analyse the influence of sex and menopause status in tumour characteristics and surgical outcomes in patients with acromegaly.Materials and methods: Retrospective coh...

Background: Pheochromocytoma and paragangliomas (PPGLs) are rare disorders with a rate of malignancy of 10–20%. The control of the hormonal symptoms caused by the catecholaminergic burden in the metastatic disease is a challenging task. Hypertension is the most recognized feature, but gastrointestinal manifestations can be hard to manage and life-threatening.Cases Presentation: We present three cases of metastatic PPGLs who developed intestinal pseu...

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors derived from chromaffin cells of the adrenal medulla and paraganglia of the autonomic nervous system, respectively. Despite a common origin, these tumors are quite heterogeneous in terms of driver mutations, copy number alterations and activated downstream-signaling pathways. Genome wide expression analysis has identified at least three main tumor clusters: a pseudo-hypoxic cluster, one with activation ...

Background: Steroid profiling by LC-MS/MS is increasingly used in endocrine research, and is being introduced in the clinical practice. Due to the large disagreement with previous immunoassays, and to the enlarged panel of measurable steroids, novel and robust reference intervals (RIs) need to be established. Steroid circulating levels are known to be influenced by several physio-pathological factors, such as age, gender, stress and metabolic status. Therefore, generating unbi...

Endocrine clinical practice strongly relies on normative data for the assessment of hormonal imbalance. However, the generation of robust steroids reference intervals (RIs) remains a challenge. As the steroids circulating levels are influenced by many procedural aspects related to blood collection (time, fasting state) and physio-pathological factors, such as age, sex, stress and metabolic status, the need for partitioning RIs is mandatory. Furthermore, unbiased healthy, drug-...

Introduction: Pasireotide (PAS) is an effective treatment for Cushing’s disease (CD) but its use is burdened by the high incidence of diabetes mellitus (DM). We aimed to evaluate the effect of a single subcutaneous injection of PAS on glucose metabolism in CD patients, to identify factors predicting rapid deterioration of glycaemic control.Methods: 14 patients [(f/m=12/2, mean age 43±11.3 years, follow-up 17 months (2-63)] with CD treated with ...