Endocrine Abstracts

Perturbation of thyroid hormone (TH) function during prenatal brain development can cause a spectrum of neurological disorders as evident in pediatric patients with untreated congenital hypothyroidism or patients with mutations in THRA and SLC16A2 genes. However, scarcity and inaccessibility of human brain tissue from early developmental stages has been a major roadblock for experimental approaches to decipher local TH action in early development. Advanced <e...

Thyroid hormones (TH) play a fundamental role in brain development. Changes on TH availability during pregnancy and early childhood can lead to neurological disorders. Accordingly, concerns are mounting that exposure to environmental compounds capable of interfering with TH action can disrupt neuronal development. Current approaches to categorize chemicals as thyroid hormone system disrupting chemicals (THSDC) are mainly based on determination of changes in circulating TH conc...

Thyroid hormones (TH) play a critical role during nervous system development and patients carrying coding variants of THRA or SLC16A2/MCT8 genes present a spectrum of neurological phenotypes presumably resulting from perturbed local TH action during early brain development. Monocarboxylate transporter MCT8 is a well-characterized TH membrane transporter and MCT8 mutations have been associated with the Allan-Herndon-Dudley Syndrome. Recent advances in stem cel...

Objective: Tablet levothyroxine (L-T4) is the common used therapy for hypothyroidism. In order to assess a good compliance to the therapy, treated patients are monitored with the execution of annual thyroid hormonal test. The stability of TSH levels in hypothyroid patients (with no malabsorption issues), treated with liquid L-T4, compared to that of the patients treated with tablet L-T4, remained a poorly understood topic. This study has the purpose to deepen this issue.<p...

Introduction: Virtually all familial cases of Medullary Thyroid Carcinoma (MTC) have a RET germline mutation. Subjects harboring RET germline mutation without unaware of their condition are defined gene carriers (GC). Thyroid surgery timing is decided upon RET mutation and calcitonin levels (both basal, bCT, and stimulated, sCT). However, bCT and sCT thresholds for planning thyroid surgery have not been established, yet.Methods...

Objectives: To evaluate the prevalence of eating disorders (ED) at an Endocrinology outpatient clinic (EOC); with the use of Bulimia Investigatory Test of Edinburgh (BITE).Methods: Descriptive analysis of clinical characteristics and BITE scores from patients with suspicion of ED at a first appointment in an EOC with an average of 128 new patients/year. Data was collected from January-2021 to December-2022. The main suspicion criteria were: self-reported...

Introduction: Pituitary neuroendocrine tumors (PitNET) are characterized by a heterogenous behavior. The immunohistochemical (IHC) staining of anterior pituitary hormones, along with that of pituitary transcription factors and with the clinical and biochemical characteristics of the patients can be integrated in a risk stratification system, which helps the therapeutic management.Material and Methods: We analyzed 37 patients with confirmed diagnosis of a...

Introduction: Clinically non-functioning pituitary neuroendocrine tumours (NFPitNETs) include all anterior pituitary tumours that are not hormonally active. In histopathology (HP) and immunohistochemistry (IHC), most of NFPitNETs are gonadotroph (1). Immunolabeling is negative in only 10% of cases (‘null-cell’). Occasionally, NFPitNETs are positive for GH, PRL, TSH or ACTH despite absent or only minimal secretion of these hormones in vivo, which are known as...

Background: PET/CT scan with 18F-fluoro-dihydroxyphenylalanine (18F–DOPA) is an emerging useful tool in medullary thyroid cancer (MTC) patients with high calcitonin (CTN) values. The aim of this study is to evaluate the potential usefulness of 18F-DOPA-PET/CT in MTC patients with biochemical incomplete response (BiR) (detectable CTN values and negative/indeterminate findings at CT scan with i.v. contrast).Materials a...

Background: DNA methylation has been recognized as a putative regulatory mechanism for CYP11B2 in primary hyperaldosteronism. We aimed to investigate the DNA methylation and the expression of a panel of genes encoding several enzymes involved in steroidogenesis in adrenocortical benign tumors.Methods: We collected a total of 60 adrenocortical tissues, including 9 non-functioning adrenal adenomas, 9 adenomas associated with autonomous cortisol se...