Endocrine Abstracts

Background: By providing a non-invasive, functional insight into brain chemistry, MRS has the potential to provide objective longitudinal data on mammalian brain development.Aims: To assess the sexual dimorphism in rodent brain chemistry and development using in vivo MRS.Methods: 26 (19 males) Sprague–Dawley rats were scanned at 6 weeks and 12 male rats at 10 weeks using a 7T MRI scanner. Testosterone concentrations w...

Adrenal masses are highly prevalent tumours comprising of a variety of entities. Therefore, therapeutic consequences also vary considerably. The CYP11B-specific PET-tracer [11C]metomidate has been shown to be suitable to characterize adrenal lesions. However, its availability is restricted to PET-centers with an on-site cyclotron. Also imaging is hindered by the short tracer half-life (20 min). Therefore, we have developed [123I]iodometomidate as a tracer...

The mechanisms responsible for the progressive failure of hypoglycemia counter-regulation in type-1 diabetes (T1DM) are poorly understood. Alterations of brain energy metabolism could influence glucose sensing by the brain and, thus contribute to hypoglycemia associated autonomic failure. Thus, we measured intraneuronal kinetics of total ATP-synthesis from PCr (kfor) in T1DM patients and effects of hypo/hyperglycemia on this brain energy metabolism. Healthy n...

Establishing failure of trans-sphenoidal surgery (TSS) to cure Cushing’s disease in the immediate post-operative period is essential for early surgical re-exploration. However, there is no consensus regarding the definition of apparent cure. We studied whether the dexamethasone-suppressed corticotrophin-releasing hormone test (LDDST-CRH test) immediately following TSS could accurately identify those with Cushing’s disease requiring further definitive treatment.<p...

Introduction: Pancreatic islet transplantation is an effective treatment for patients with type 1 diabetes mellitus (T1DM) with unstable metabolic control. However, the quality of islets isolated from a donor is negatively affected by the inflammatory environment related to the donor’s brain death and by the stress related to islet isolation and culture. To overcome islet quality loss, some studies have co-cultured islets with mesenchymal stromal cells (MSCs). Considering...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited endocrine tumor syndrome characterized by development of cancer in various endocrine organs, particularly in pituitary, parathyroid and pancreas. Moreover, in some cases, also non-endocrine tumors can be diagnosed, developing atypical phenotypes.Case report: We report herein the clinical history of a patient affected by MEN-1 syndrome who developed atypical feat...

Introduction: Available literature on series of patients affected by ectopic Cushing’s syndrome (ECS) deriving from neuroendocrine tumours (NETs) is relatively scarce. This is the first Italian multicentre study regarding clinicopathologic features, modalities of treatment, and survival of patients with NETs and ECS.Patients and methods: Retrospective analysis of data from patients with ECS from NETs collected in 14 centres between 1986 and 2014, ob...

Introduction: To date, two pharmacogenetic studies investigated the effect of the common exon 3 deletion of GH receptor (d3-GHR) variant in small series of acromegalic patients treated with Pegvisomant (Peg), suggesting an association of d3-GHR allele with better response to Peg.Aim: To assess the influence of d3-GHR variant in a large cohort of acromegalics with active disease and resistance to somatostatin analogues (SSA) treated with either Peg monoth...

Gigantism is an extremely rare condition and hence the relevant literature is largely a series of case reports. We present data on patients with gigantism <20 years of age identified from Pfizer’s Acrostudy registry of patients treated with pegvisomant.Eleven patients (5M) were identified: IGF1 at diagnosis was 1.6×ULN (1.15–3.3), height +5 SDS (1.1–3.8) and age 14.5 years (4–19). The three youngest (4, 7 and 14 years) had pi...

Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.Methods: 1050 registered cases on The I-DS...