Endocrine Abstracts

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS)is a rare genetic spectrum of disorders characterised by multiple hamartomas and increased risk of cancers including thyroid cancer. People with PHTS have an increased lifetime risk of differentiated thyroid carcinoma (DTC), estimated to be about 35% compared to the general population risk of below 1% (1). Case Presentation: We report a 38-year-old male who presented with a Goitre found on routine examina...

Introduction: Pseudohypoparathyroidism (PHP) is a rare cause of hypocalcaemia due to parathyroid hormone (PTH) resistance in the proximal renal tubules. In contrast to PHP type 1A, PHP type 1B is characterised by the absence of the characteristic skeletal abnormalities and is transmitted in an autosomal dominant manner, but in the maternal line. Patients may have resistance to the action of other G-protein signaling hormones, like thyroid stimulating hormone (TSH).<p class...

Background: Iodine deficiency and excess are well-recognized risk factors for thyroid dysfunction. This systematic reveiw and meta-analysis was designed, for the first time, to explore whether maternal iodine status or supplementation is associated with postpartum thyroid function.Methods: Electronic databases, including the MEDLINE/PubMed, Web of Science, Embase, and Scopus were searched between January 1923 and December 2021 to identify relevant studie...

Introduction: Radiotherapy is an important adjuvant treatment for pituitary and cranial diseases. The aim of the study was to observe response of Radiotherapy (RTX) on Hypothalamic–Pituitary–Adrenal (HPA) axis determined by serial Short Synacthen tests (SSTs). Methods: Patients treated with adjuvant Cranial Radiotherapy between the years 2000 and 2018 in the department of Radiation Oncology and who also underwent serial Short Synacthen tests, i...

Turner syndrome is a common chromosomal disorder affecting 1 in 2500 life female births. Turner syndrome is associated with congenital cardiovascular malformations of the aortic arch, systemic and pulmonary venous return with reported incidences ranging from 23 to 45%. These vascular malformations cause significant morbidity and mortality with increased incidence of aortic pathology, right heart strain and pulmonary hypertension as a result. In this investigation we retrospect...

Background: The GST is commonly used in children and adolescents for the diagnosis of growth hormone (GH) deficiency. Evidence supports the use of sex steroid priming to improve diagnostic accuracy in GH provocation tests. This project, undertaken on behalf of the BSPED Clinical Committee, aims to identify current practice and develop consensus in sex hormone priming and GST protocols for the development of standardised UK protocols.Method: (1) Audit of ...

Background: Neonatal cortisol assessment is indicated in suspected adrenal insufficiency.Aims/objectives: Review of neonatal cortisol assessment within our Trust over seven years, to analyse trends, indications, outcomes; and relationships between gestational age (GA), birth weight (BW) and cortisol assessment.Methodology: From cortisol results on neonates (≤30 days age) between 2012–2018 (inclusive) we identified random...

Background: Our Paediatric Diabetes service has a challenging rise in proportion of patients with Type 2 Diabetes Mellitus (T2DM); 8.5% of our current cohort; compared to 3.5% regionally and 2.5% nationally (NPDA 2017–2018).Objectives: Establish a T2DM New Diagnosis Pathway and T2DM clinics aiming to achieve HbA1c < 48 mmol/mol for all new patients at 3 months and a year, with 10% weight loss.Methods: Patients diagnosed wi...

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD). It is characterized by autosomal dominant inheritance, early onset diabetes, defect in the β-cell insulin secretion, positive family history, absence of diabetic ketoacidosis, auto-antibodies and insulin resistance. To date, 14 different MODY subtypes have been reported each one with distinct genetic etiology, however MODY patie...

Introduction: Although oocyte donation (OD) is increasingly utilised in women with Turner’s syndrome (TS) few data are available. Reported clinical pregnancy rates following OD range from 17 to 40%. Complications of 2% death from aortic dissection and severe hypertension are reported.Aim: To analyse the OD-pregnancy success rate and materno-fetal outcomes in women followed in a TS-dedicated centre.Methods: A retrospective stud...