Endocrine Abstracts

Introduction: ROHHADNET is a rare syndrome characterized by rapid onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumours. Although obesity is the first recognisable feature, there is variable onset of other features, resulting in delayed or missed diagnosis, potentially leading to fatal consequences. We describe two cases with features of ROHHADNET, who had high heterogeneity in clinical spectrum. Cas...

Introduction: Papillary thyroid carcinoma (PTC) is the most frequent endocrine malignancy. Apart from genetics, autoimmunity has been implicated in its pathogenesis. In this context, we set out study the role of Pro- inflammatory cytokines in PTC in South Indian population.Material and methods: This prospective case-control study was conducted on surgically managed PTC patients. Institutional ethical committee approval was obtained. Diagnosis of PTC was ...

Introduction: Thyroidectomy can performed by open or wide array of endoscopic techniques. Lack of uniform consensus on specific indications for each technique leads to confusion on ideal thyroidectomy technique. In this context, we analysed our experience with specific emphasis on deducing an algorithm on ideal technique for a given patient. Material and methods: This is a retrospective study conducted at a tertiary care endocrine surgery department in S...

Background: Preeclampsia (PE) continues tochallenge both the clinicians and researchers worldwide, as the existing knowledge on its etiopathology does not come up with an efficient and foolproof treatment regime due its progressive nature and uncertain diagnosis and prognosis. In this context, miRNAs represent a potential therapeutic target and a diagnostic tool.Objectives: Circulating microRNAs present in maternal blood play an important role in the eti...

Loss- and gain-of-function mutations of the calcium-sensing receptor (CaSR) cause familial hypocalciuric hypercalcaemia (FHH) and autosomal dominant hypocalcaemia (ADH), respectively. The CaSR is a homodimeric receptor that has a 612 amino acid extracellular domain (ECD), which binds extracellular calcium (Ca2+e) and mediates dimer interactions upon ligand binding. The ECD consists of lobes 1 and 2, and a cysteine-rich domain (CRD). To elucidate the struc...

Heterotrimeric G-proteins are important molecular switches that transduce extracellular ligand-binding at G-protein-coupled receptors (GPCRs) to intracellular signals. G-protein alpha-subunits (Gα) have two domains, a helical and GTPase domain, which provide structural stability and mediate GTPase activity, respectively. Gain-of-function Gα mutations cause endocrine conditions including McCune-Albright Syndrome, due to Gαs mutations, and a...

The autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is an autosomal recessive disorder characterized by immune deficiency and the autoimmune destruction of endocrine organs such as the parathyroids, adrenal cortex and ovaries. APECED is caused by biallelic germline mutations of the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which is expressed in thymic medullary epithelial cells and plays a key role ...

Hypoparathyroidism may occur as: a hereditary syndromic disorder (e.g. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), Hypoparathyroidism Sensorineural Deafness and Renal Disease (HDR), Autosomal Dominant Hypoparathyroidism type 1 (ADH1), or ADH type 2 (ADH2), which are due to mutations of autoimmune regulator (AIRE), GATA binding protein 3 (GATA3), calcium-sensing receptor (CASR) and G-protein sub...

Current treatments, including surgery, medical therapy, radiotherapy, and radionuclide therapy for neuroendocrine tumours of the pancreas (PNETs) and bronchus (BNETs) are often unsatisfactory, leading to a 5-year survival of <50% and 5%, respectively. PNETs and BNETs frequently have mutations in chromatin-remodelling genes and the protein encoded by the multiple endocrine neoplasia type 1 (MEN1) gene, menin. Menin binds the...

Loss- and gain-of-function mutations of the calcium-sensing receptor (CaSR) cause familial hypocalciuric hypercalcaemia (FHH) and autosomal dominant hypocalcaemia (ADH), respectively. The CaSR is a homodimeric receptor that has a 612 amino acid extracellular domain (ECD), which binds extracellular calcium (Ca2+e) and mediates dimer interactions upon ligand binding. The ECD consists of lobes 1 and 2, and a cysteine-rich domain (CRD). To elucidate the struc...