Endocrine Abstracts

Neuroendocrine neoplasia (NENs) are rare tumours that show features of neuroendocrine differentiation. Generally, NENs can be subdivides into high-grade neuroendocrine carcinomas (NECs) and low-to-intermediate grade neuroendocrine tumours (NETs). The most common Endodermal NETs’ localisations are the lungs, ileum, appendix, and rectum. Neuroectodermal NETs include medullary thyroid cancer (MTC), pheochromocytoma (PHEO), and paraganglioma (PGL). Nets are estimated to occur...

Stiff person syndrome (SPS) is a rare disease characterized by progressive muscle rigidity and spasms, which can lead to functional disability. This condition can be challenging to diagnose if there is no high index of suspicion. Its etiology is unknown, but one of the most likely causes is autoimmune aggression, which is corroborated by that fact that it is associated with other autoimmune diseases in half of the cases described in literature.We will pr...

Multiple benign symmetric lipomatosis (Madelung’s disease, Launois–Bensaude syndrome) is significantly rare disease characterised by symmetrical focal deposition of adipose tissue in the neck, upper part of the arms, back, pelvis, and thigh. Although its etiology is uncertain, it has been associated with genetic factors, mitochondrial inheritance and alcoholism. Its pathogenesis seems to include a dysfunction of cAMP and levels of catecholamines in adipocytes. This c...

Berardinelli-Seip syndrome is an autosomal recessive disorder characterized by generalized lipoatrophy, extreme insulin resistance with dyslipidaemia in childhood and development of diabetes and hepatic steatosis in adolescence. The metabolic derangements can be severe and lead to substantial comorbidities, including acute pancreatitis, hepatic cirrhosis, and premature cardiovascular disease. Other manifestations can include polycystic ovarian syndrome, acanthosis nigricans, a...

Metabolic liver dysfunction can be a causative factor for morbity and mortality in Berardinelli–Seip syndrome patients. We evaluated hepatic function in 29 Berardinelli–Seip patients. Diabetes mellitus (DM) was present in 23 of them. We analyzed biochemical parameters including AST, ALT, GGT, ALP levels and liver non invasive imaging aspects. The liver was graded as normal, mild, moderate, or severe hepatic steatosis.Results: We could not find ...

Wearable physical activity monitors are growing in popularity as they provide the opportunity for self-monitoring, real time data collection and data sharing for cardiovascular and sports medicine. However, there are discussions about the accuracy of their energy expenditure estimate. This study examined and compared basal metabolic rate through indirect calorimetry and through wrist-worn devices and bioimpedance. The group consisted of 30 healthy male individuals, professiona...

The Barraquer-Simons syndrome is a rare form of partial symmetric lipodystrophy with involvement of the face and upper body, of unknown cause, characterized by loss of subcutaneous fat in the face and started stretching for the upper body.Case report: Female patient, 26 years old, presenting morphologic change in facies, chest, upper limbs, lower limbs and abdomen since she was 10 years old. Last year, she has increased weight at 30%, with apparent muscl...