Endocrine Abstracts

Mutations in the Seipin/BSCL2 gene cause either type 2 congenital generalized lipodystrophy (BSCL) or dominant motor neuron diseases. However, we recently discovered a c.985C>T mutation in the BSCL2 gene that results in a novel fatal neurodegenerative syndrome (celia encephalopathy). This mutation induces an alternative splicing which results in skipping of exon 7 and a reading frame shift (Guillen-Navarro et al. 2013 J Med Genet <strong...

Objective: To report a case of hyperandrogenism attributable to the presence of an ovarian Leydig cell tumor secreting testosterone in a postmenopausal woman.Methods: The laboratory, radiologic, and pathologic findings in our case are described.Results: A 59-year-old woman presented with a history of gradual increase in facial and body hair, scalp hair loss, male pattern baldness, and deepening of her voice, beginning 5–6 year...

Introduction: Research has demonstrated that knowledge about medications, diet, exercise, home glucose monitoring, foot care, and treatment modifications is necessary to effectively self-manage diabetes, and the assessment of diabetes-related knowledge is an important first step from which to individualize diabetes education programs and make evaluations of their effectiveness.Purpose: To assess the knowledge of diabetes mellitus (about the disease, its ...

Several Rab proteins control secretory granule trafficking and, hence, hormone release, by regulating the activity of different components of the secretory granule transport machinery. Particularly, Rab18 inhibits secretory granule movement, which leads to reduced neuropeptide and hormone secretion in PC12 pheochromocytoma cells and ACTH-secreting ATt20 cells, respectively, but how this GTPase accomplishes its role and the identity of the proteins that regulate Rab18 activity ...

Introduction: A key factor in the progressive increase in the prevalence of obesity is poor dietary habits. The treatment of obesity with regular diets often fail, so knowing the specific habits of these patients can be very useful to individualize treatment.Objective: Evaluate the dietary habits of subjects consulting for obesity in our clinic of Endocrinology and NutritionMaterials and methods: We conducted a survey of eating hab...

Background: HIV-infected paediatric patients usually show impaired growth. Data reporting abnormalities in GH–IGF–IGFBPs system are scarce and inconclusive.Aim: To analyse blood concentration of the major components of IGF–IGFBPs system in these children and compare them to growth parameters and to cytokines levels.Methods: prepubertal HIV-infected children, aged 8.2±1.7 years, were evaluated every 6 months duri...

Ghrelin (Ghr) acts as a link between energy balance and reproduction; hence, hyperghrelinemia reduces reproductive success. In addition, this hormone has an evident physiological role on reproduction, since Ghr and/or its receptor are synthesized by gametes/embryos and several reproductive tissues (including decidua/placenta); in addition, Ghr plasma concentration rises during gestation.The objectives of our study were to evaluate the effects of ghrelin ...

Introduction: Surgery is the usual therapeutic approach for treatment of recurrent lymph node metastases due to thyroid carcinoma. However, there is no evidence of improvement in the final prognosis and is not an option without risk, especially in patients such as those who already underwent several surgeries or suffered from comorbidities.PEI is a useful alternative for treatment of selected thyroid diseases. Here, we present our experience in patients ...

Introduction: Routine central lymph node dissection (CLND) in papillary thyroid carcinoma (PTC) is controversial. Selective biopsy of the sentinel lymph node (SLN) could improve the surgical approach, as negative cases would benefit from avoiding a more aggressive technique and in positive samples a more accurate staging would be obtained.Aim: To analyze the usefulness of SLN biopsy in the surgical treatment of PTC.Patients and Met...

Introduction: There is no known reliability about an undetectable recombinant human TSH (rhTSH) stimulated serum thyroglobulin (Tg) concentrations, predicts no long-term relapse, or the threshold of it. An rhTSH-stimulated serum Tg determination was made to all patients with DTC that maintained undetectable baseline Tg and negative imaging tests. We correlate their findings with their long-term evolution.Methods: We collected 91 patients with DTC, 73 wom...