Endocrine Abstracts

Background: Most thyroid specific genes are transcriptionally regulated by TSH-TSHR signalling and T4-driven negative feedback of TSH secretion at the pituitary. However, local autoregulation of transcription has been described from IGF-IGFR, follicular thyroglobulin, or iodine. We aimed to investigate the TSH dependency of thyroid transcriptional regulation in the Dehal1 knockout, devoid of iodide-recycling capacity from iodotyrosines.Methods: ...

Introduction: Recent studies showed that morphometric vertebral fractures (VF) are an early and frequent complication in patients (pts) withhyperfunctioning pituitary adenomas and hypopituitarism (independently from the etiology). GH excess or severe deficiency play a negative key role on bone health in this clinical setting. Disease control or adequate replacement therapies still remain a cornerstone for the clinician to reduce the burden of osteo-metabolic complications. To ...

Background: Premature ovarian insufficiency (POI) is an ovarian defect characterized from primary or secondaryamenorrhea, high levels of FSH (> 25 UI/l) and low levels of estrogen, which occurs before age 40.Objective: The aim of the study was to evaluate the clinical features and genetic causes of a group of 68 patients with POI.Methods: We performed anamnestic and clinical evaluation, hormonal and autoimmunity assessment, pel...

Introduction: The use of multigene panels in thyroid nodule diagnosis is still limited, due to high costs and need for ad hoc sampling. Since BRAF-V600E is the commonest genetic alteration in differentiated thyroid cancer, this is the mostly tested genetic parameter in clinical practice.Aim: To evaluate the use of BRAF mutation analysis in wash-out liquid from fine needle aspiration (FNA) in clinical practice, characterizing th...

Background: RhGH treatment in adults with childhood onset growth hormone deficiency (COGHD) affect bone metabolism over time according to gender and age. A long-term study of bone mass density (BMD) in young-middle age hypopituitary patients with COGHD may better highlight possible benefits of therapy and improve clinical follow up.Methods: We enrolled 40 adults (age range during follow-up: 16.8–36 years, F: 38%) with COGHD with at least 20 years o...

Introduction: Cinacalcet is an oral calcimimetic indicated in treatment of primary hyperparathyroidism if patients do not accept surgery, do not carry out the surgical criteria, there is failure of previous surgery or serious comorbidity that makes surgery impossible.Methods: Descriptive study that included 20 patients with primary hyperparathyroidism who had complete at least 12 months of treatment with cinacalcet for different reasons (eight patients r...

Introduction: Liraglutide, a GLP-1 analogue, is a new option for the treatment of type 2 diabetes (DM2). The purpose of this study was to evaluate the efficacy and safety of liraglutide in daily clinical practice in a heterogeneous population with DM2.Subjects and methods: Four visits were scheduled in a 1 year study (baseline, 4, 8 and 12 months). All patients with a HbA1c not on target (>7%) during an oral hypoglycemic treatment, or patients intole...

Introduction: Liraglutide, a human GLP-1 analogue, is a new option for the treatment of type 2 diabetes (DM2). The purpose of this study was to evaluate the effects of liraglutide on cardiovascular risk factors in daily clinical practice in a heterogeneous population with DM2.Subjects and methods: Four visits were scheduled in a 1 year study (baseline, 4, 8 and 12 months). Patients with a HbA1c not on target (>7%) during an oral hypoglycemic treatmen...

Prostate cancer (PCa) is one of the leading causes of tumor death in Western countries. Modifications in expression and functional alterations that involve the androgen receptor (AR) have been implicated in the progression of PCa and in the development of androgen independence; however, the role of AR in these processes is still debated, as contrasting results have been reported in several studies evaluating the relation between AR expression and disease progression (Tamburrin...

Introduction: At present, only eight men with loss-of-function mutations in the CYP19A1 gene have been described. Here we report the genetic study of four adult men with undetectable serum estrogens, unfused epiphyses, eunuchoid skeletal proportions, continuing linear growth, tall stature, genu valgum, osteoporosis, obesity and achantosis nigricans. Patient 1 (26-years/182 cm) and 2 (28-years/187 cm) are from Turkey with a history of consanguinity. Patient 3 (44-years...