Endocrine Abstracts

The androgen receptor (AR) is required for the development of the male phenotype and traits. Some compounds, including diphenylethers and diphenylamines, inhibit AR activity by binding to a surface cleft named binding function 3 (BF-3). Such inhibitors bind by hydrophobic interactions between the two phenyl groups and the BF-3 site. A similar diphenyl group structure is found in 4,4′ DDT, 4,4′ DDE, 4,4′ DDD, and 2,4′ DDD, whic...

The androgen receptor (AR) is required for the development of the male phenotype and traits. Some compounds, including diphenylethers and diphenylamines, inhibit AR activity by binding to a surface cleft named binding function 3 (BF-3). Such inhibitors bind by hydrophobic interactions between the two phenyl groups and the BF-3 site. A similar diphenyl group structure is found in 4,4′ DDT, 4,4′ DDE, 4,4′ DDD, and 2,4′ DDD, whic...

Introduction: Papillary thyroid carcinoma (PTC) and medullary thyroid carcinoma (MTC) are distinct neoplasms, associated with different histological findings. Their coexistence in the same patient is a rare event, requiring a different clinical approach.Clinical case: A 72-year-old patient with no family history of thyroid disease, underwent total thyroidectomy in February 2019, due to toxic multinodular goitre, with no evidence of postoperative complica...

The majority of loss-of function mutations of G protein coupled receptors, leading to diseases, such as diabetes insipidus (V2 vasopressin receptor) or retinitis pigmentosa (rhodopsin) are consecutive to retention of the receptor in the endoplasmic reticulum (ER). Cell surface expression and biological function can be restored by membrane-permeable ligands called pharmacological chaperones. The V1b/V3R, one of the 3 subtypes of vasopressin receptors, is involved in the regulat...

Introduction: Only <1% of cases of primary hyperparathyroidism (PHPT) occur during pregnancy. PHPT increases risk of complications such as miscarriage, premature birth and life-threatening maternal hypercalcemic crises. Hyperparathyroidism Jaw Tumor Syndrome (HPT-JT) is a rare inherited cause of PHPT, resulting from CDC73 gene mutations. There are a few reports described about HPT-JT in pregnancy. Although parathyroidectomy is the definite treatment for PHPT, given the sca...

Introduction: Recent studies seem to support a bidirectional positive interaction between aldosterone and parathyroid hormone (PTH). Understanding the normal physiological relationship between renin-angiotensin-aldosterone system (RAAS) and PTH is of clinical interest because their inappropriate activity may negatively impact cardiovascular and skeletal health.Objective: To evaluate the presence of an interaction between aldosterone and PTH in a cohort o...

The unresponsiveness of anaplastic thyroid carcinomas (ATCs) to multimodal therapy represents the major challenge in thyroid cancer treatment. Our group previously showed that genes involved in cell cycle are differentially expressed in ATCs compared to normal thyroid, and that the most common mutations found in these tumours are related with proliferation and cell cycle genes, namely TP53, RAS, CDKN2A and CDKN2B. Therefore, these genes are ...

Introduction: Autoimmune Addison disease requires lifelong glucocorticoid and mineralocorticoid replacement. Optimal therapy is not standardized and must balance adequate hormone substitution with prevention of treatment-related complications.Objective: Assessment of patients followed at our department: epidemiology, associated conditions, treatment, cumulative hydrocortisone dose and comorbidities.Methods: Review of clinical recor...

Introduction: Obesity is a chronic disease associated with multiple comorbidities, defined by BMI, without considering the metabolic state of the patient. There are few data on the proportion of obese patients without metabolic syndrome (MS).Objective: To characterize patients considered to be metabolically healthy (MH) followed at the obesity outpatient clinic of one University Hospital, and to compare this group with a group of obese patients with MS.<...

The aryl hydrocarbon receptor interacting protein gene has been mainly involved in the pathogenesis of GH/PRL-secreting pituitary adenomas (PA). We wished to study the significance of AIP expression in clinically non-functioning PA (NFPA).Material and methods: 48 NFPA -27 gonadotroph (GnPA), 21 null cell (ncPA) – were studied for AIP, βFSH and cyclin D1 expression by real-time RT-PCR (qRT), compared with four normal post-mortem pituitaries (NP)...