Endocrine Abstracts

Introduction: Lipodystrophies are a group of genetic or acquired diseases characterized by abnormal adipose tissue deposition, frequently associated with insulin resistance, diabetes mellitus, dyslipidaemia, hypertension and hepatic steatosis. Congenital generalized lipodystrophy (LCG) is a well-defined syndrome with autosomal recessive heredity, prevalence <1:10million, with about 400 cases being described. Extreme shortage of subcutaneous adipose tissue, muscle hypertrop...

Objectives: To study the association of functional polymorphisms at DHFR, CBS and MTHFR genes with bone mineral density (BMD) and metabolic parameters of bone remodeling.Materials and methods: BMD (g/cm2) was measured by DEXA in 391 subjects: 174 with normal BMD (137F 37M; age=48.79±12.99 years; BMI=29.61±5.22 kg/m2), 62 with osteopenia (48F 14M; age=56.06±12.96 years; BMI=27.64±4.94 kg/m2) and 154 with osteoporosis (119F, 35M; age=64...

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...

Introduction: Adipose tissue disturbances (lipodystrophy and obesity) are prevalent in patients infected with HIV. Our aims were to evaluate the prevalence of obesity and the association with lipodystrophy, the effect of gender, age, viral replication, duration of disease and cART in a population of HIV patients under cART.Methods: In this retrospective study, 580 patients were included. The characteristics of the population are presented through percent...

It is well established that the kisspeptins are the main activators of GnRH neurons and therefore essential for the onset of puberty and reproduction. Previous studies have suggested that kisspeptin neurons are possibly major targets of pro-inflammatory cytokines to regulate reproduction. SOCS (suppressor of cytokine signaling) are proteins that regulate, as it says, cytokines. They inhibit the transduction of intracellular effects caused by those molecules, once that cytokine...

Introduction: Pheochromocytomas/paragangliomas are rare neuroendocrine tumors. Although mostly sporadic, about 1/3 of the cases correspond to inherited autosomal dominant syndromes, often associated with germline mutations of the SDHD, SDHC and SDHB genes. The association with the SDHAF2(SDH5) gene has been recently discovered, with only few cases published worldwide, and it presents as a paraganglioma of the head and neck, without previous known description of other locations...

Disparities in the quality of care for patients with type 1 diabetes (T1D) undergoing transition from children’s to adult services are well recognised. Poor planning and ill-defined care pathways promote patient disengagement with many becoming ‘lost’ to specialist follow-up for years. This study sought to obtain the views of young people’s experiences of transition to identify perceived barriers to an effective and rewarding transition experience. A qualit...

IntroductionMaturity Onset Diabetes of the Young (MODY) affects 1–2% of diabetic patients. Subtype 5 (HNF1β mutation) is rare (~1% of all MODY subtypes) and extra-pancreatic manifestations are often present (chronic kidney disease (CKD), liver disease and/or genitourinary malformations).AimTo report and review confirmed MODY 5 cases in an Endocrinology Department.Meth...

Objective: We prospectively evaluated the quality of postoperative neck ultrasound (POU) for thyroid cancer patients in our healthcare region after the implementation of European Thyroid Association (ETA) guideline-based POU assessment with one radiology group in 2018.Methods: Our analysis involved 672 differentiated thyroid cancer (DTC) patients treated at our center between April 1, 2017, and March 1, 2023. POU report quality was compared between radio...

First TBSRTC editions have made advances in problems of thyroid management. However, the real grey zone ‘AUS/FLUS’ and ‘FN/SFN’categories have been remained to be problematic with the wide range of ROMs documented in the literature alongside two editions. The ROMs of ‘AUS/FLUS’ and ‘FN/SFN’ categories were defined as 5-15% and 15-30% and the management was ‘repeat FNA’ and ‘lobectomy’ -respectively- in the first editi...