Endocrine Abstracts

Introduction: Thyroid ultrasonography and fine needle aspiration (FNA) are the most useful techniques in the evaluation of thyroid nodules. They are cheap, fast, minimally invasive and high precision methods. The FNA can be performed by palpation or ultrasound guidance. The use of ultrasound reduces the nondiagnostic results rate. However, the cytologic diagnostic accuracy depends on the technique and pathologist experience. Ultrasonography confirms the presence of a thyroid n...

IntroductionThe close relationship between cancer and thrombotic phenomena has been widely recognized and paraneoplastic organ infarctions may occur. Reports of papillary thyroid cancer associated to paraneoplastic phenomena are particularly scarce.Case reportA 39-year-old man with no prior relevant medical history was evaluated for acute onset of fever, malaise and mild pain referred to his left hypochondriu...

Introduction: Effects of prior exposure to testosterone (T) during puberty on the performance of transgender women (TW) in estrogen therapy undergoing physical effort are not known, mainly about cardiopulmonary capacity (CPC). Objectives: To evaluate CPC and muscle strength in TW undergoing long-term gender-affirming hormone therapy (GAHT). Methods: A cross-sectional study was carried out with 15 TW (34.2±5.2 yo), 13 cisgender men (CM) and 14 cisgender women (CW). TW were i...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without a clear genetic aetiology. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated transcriptional regulator, which plays an essential role in neuronal maturation. It is encoded by the MECP2 gene, located at chromosome Xq28, which is highly expressed in brain tissues. Loss-of-function mutations in MECP2 are usually associa...

Introduction: Diabetic foot infection imposes a significant burden and is a major cause of non-traumatic limb amputation. Antibiotic therapy plays a crucial role in the management these patients. In our institution, empirical antibiotic therapy is tailored to the presence of risk factors for multidrug-resistant microorganisms. For patients without risk factors, empirical intravenous amoxicillin-clavulanate at a dose 2.2 g every 8h is used. For patients with risk factors such a...

Context: Little is known about the frequency of key mutations in thyroid cancer metastases and its relationship with the primary tumor genotype.Objectives: To evaluate the frequency of TERT promoter (TERTp), BRAF and NRAS mutations in metastatic thyroid carcinomas, analyzing primary thyroid tumors, lymph node metastases (LNM) and distant metastases.Material and Methods: Mutation analysis was performed in 437 tissue samples from 204...

Introduction: The existence of clear differences between the biological course and clinical behaviour of minimally invasive (MI) and widely invasive (WI) follicular thyroid carcinomas (FTC) is still debatable. The present study was conducted to outline the clinical differences between MI and WI-FTC and evaluate outcomes in both tumors.Methods: We conducted a retrospective cohort study involving 80 cases of FTC. The comparison between MI-FTC and WI-FTC in...

Introduction: Adrenocortical carcinoma (ACC) is a rare and aggressive tumor, with a poor prognosis and median survival of 3–4 years. Complete surgical resection is the only possibility of cure. The rate of post-surgical recurrence is high, so adjuvant treatment with mitotane plays a key role.Objectives: To evaluate predictive factors of response to adjuvant treatment with mitotane in monotherapy in patients that underwent surgical resection of ACC....

Introduction: Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease (1:4 million) characterized by a fatal premature aging. There are 162 cases worldwide, five of them in Portugal. It is caused by a sporadic autosomal dominant mutation in LMNA gene that encodes an abnormal variant of the laminin-A protein, named progerin. Although most babies born looking healthy, they begin to display some characteristics of Progeria around 18–24 months of life. The ear...

Introduction: Tyrosine kinase inhibitors (TKI) demonstrated clinically significant activity in radio iodine (RAI)-refractory differentiated thyroid cancer (DTC) and in locally recurrent, unresectable and metastatic medullary thyroid cancer (MTC). The natural history of MTC and DCT is quite variable with rates of disease progression ranging from a few months to many years. TKI can be associated with progression-free survival, but is not curative and the side effects may have a ...