Searchable abstracts of presentations at key conferences in endocrinology

ea0103oc3.1 | CME Case Presentations 3 | BSPED2024

Phenotypic features of two brothers with a rare X-linked insulin-receptor substrate 4 (IRS4) mutation and the suspected role of IRS4 in the HPT axis

McCarrison Sarah , Shewale Shubhangi , Hamilton Mark , Wong Sze Choong.

Introduction: Mutations in IRS4 have recently been shown to cause X-linked congenital central hypothyroidism in males. We present two brothers with IRS4 mutation who presented to the endocrine service in adolescence.Case description: The younger brother presented with suspected vitiligo to paediatric dermatology at age 12. Thyroid function was performed to rule out autoimmune primary hypothyroidism, but detected low FT4 (6.7 pmol/l) and...

ea0077p130 | Nursing Practice | SFEBES2021

Assessing the effectiveness of the endocrine specialist nurses (ESN) hydrocortisone education video created during covid-19 pandemic

Grounds Kerrie , Lewin Michelle , Hamilton Amanda , Jones Karen , Beeharry Deepa , Sharma Dushyant

Background: During Covid-19 pandemic, we recognised the importance of optimising adrenal insufficient patients’ ability to manage adrenal crisis and seek medical intervention thereby reducing the need for more intensive support. Evidence suggests omission of steroids during an adrenal crisis is a medical emergency and can be fatal. Research by National Reporting Learning System (2020) identified 4 deaths, 4 admissions to critical care, 320 incidents relating to steroid re...

ea0085oc3.1 | Oral Communications 3 | BSPED2022

A rare form of ovotesticular difference of sex development (DSD) in combination with severe early-onset obesity due to MC4R mutation: clinical features and diagnostic challenges

Hawton Katherine , Narayan Kruthika , Hamilton-Shield Julian , Giri Dinesh , Crowne Elizabeth

Background: We describe a patient with 46XX ovotesticular difference of sex development (DSD) due to 46XX/69XXY gonadal mixoploidy, also an NR5A1 variant, who developed severe early-onset obesity and subsequently a pathogenic MC4R variant was identified.Case Presentation: A term Caucasian baby weighing 3.64kg with non-consanguineous parents presented with atypical genitalia (Prader Stage 2-3) with clitoromegaly, perineal urethral openin...

ea0085oc9.7 | Oral Communications 9 | BSPED2022

Liraglutide for the treatment of severe obesity in children: early experiences from a tier 3 paediatric weight management service

Hawton Katherine , Price-Drewett Olivia , Wenn Melanie , Fitzgerald Amy , Hamilton-Shield Julian , Giri Dinesh

Background: Liraglutide is a glucagon-like peptide analogue recently approved for use in children and young people for treating obesity. It is recommended for use within multidisciplinary weight management services, alongside dietetic and lifestyle interventions, in children over 12 years with severe obesity.Aim: To describe our experiences of using liraglutide in a tier 3 paediatric obesity service in a patient cohort who had previously failed to succes...

ea0065p355 | Reproductive Endocrinology and Biology | SFEBES2019

Identifying placental hormones regulating maternal physiology during pregnancy – potential diagnostic and treatment markers for pregnancy complications

Napso Tina , Zhao Xiaohui , Lopez-Tello Jorge , Hamilton Russell S. , Sferruzzi-Perri Amanda N

Pregnancy is characterised by profound changes in maternal physiology. For instance, there are changes in the metabolic, cardiovascular, immune and renal systems of the mother which enable her to support fetal nutrient supply and growth. These changes are signalled in part by the production of protein hormones by the placenta (Napso et al., 2018). Failures in maternal adaptation and placental function lead to pregnancy complications such as abnormal birth weight and g...

ea0059p013 | Adrenal and steroids | SFEBES2018

Adrenalectomy for removal of adrenal incidentalomas: are we being too cautious? A Retrospective Database Analysis

Harte Rachael , Hamilton Jane , Perry Colin , Watson Carol , Freel E Marie

Objective: Incidentally discovered adrenal masses (‘incidentalomas’) are found in 2% of the population. Adrenalectomy is necessary only in a small proportion of such subjects as outlined by the relevant ESE/ENSAT guideline1. However, uncertainty exists over the need for removal of lesions between 4 and 6 cm and those with low lipid content on CT scanning (found in 20% of benign adenomas). Our centre tends to offer surgery for all adenomas >4 cm.<p ...

ea0070aep277 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Association and predictive ability of maternal body composition parameters in early pregnancy to identify gestational diabetes mellitus

Cremona Alexandra , O’Gorman Clodagh , Ismail Khadijah , Hayes Kevin , Donnelly Alan , Hamilton Jill , Cotter Amanda

Background: Accurate early risk prediction for gestational diabetes mellitus (GDM) would target intervention and prevention in women at the highest risk. We evaluated maternal risk factors and parameters of body composition to develop a prediction model for GDM in early gestation.Methods: A prospective observational study was undertaken. Pregnant women aged between 18–50 y of age with gestational age between 10–16 weeks were included in ...

ea0070aep308 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Effect of maternal obesity and degree of glucose intolerance on neonatal hypoglycaemia and birth weight: A retrospective observational cohort study in women with gestational diabetes mellitus

Cremona Alexandra , Saunders Jean , Cotter Amanda , Hamilton Jill , Donnelly Alan , O’Gorman Clodagh

Introduction: Gestational diabetes mellitus (GDM) is an increasing problem worldwide. Post-natal-hypoglycaemia and excess-foetal-growth are known important metabolic complications of neonates born to women with diabetes. This retrospective-cohort-study aims to determine the influence of obesity and glucose-intolerance on neonatal-hypoglycaemia and birth-weight over the 90th percentile (LGA).Methods: Data were abstracted from 303 patient medical records f...

ea0070aep432 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Do early gestation maternal body composition parameters identify neonates born large for gestational age?

Cremona Alexandra , Cotter Amanda , Ismail Khadijah , Hayes Kevin , Donnelly Alan , Hamilton Jill , O’Gorman Clodagh

Background: Globally, birth-weights are increasing progressively. Birth-weights large for gestational age (LGA) defined as ≥90th centile are linked to increased delivery complications, and adiposity in the neonate. This has been linked to glucose intolerance and CVD later in life. Oversupply of nutrients in utero contribute to excess foetal growth, and maternal obesity may contribute to this rise. The aim of this study is to examine the relationship between para...

ea0032p72 | Bone and Osteoporosis | ECE2013

Circadian rhythm of circulating sclerostin in healthy young men

Shankarnarayan Santosh H , Ahluwalia Rupa , Hamilton Amanda , Barraclough Dong L , Fraser William D , Vora Jiten P

Introduction: It is recognised that osteocytes, by secreting sclerostin plays a more central role in bone homeostasis. Sclerostin is a physiological inhibitor of bone formation. By binding to the LRP5/6 receptor sclerostin inhibits the Wnt signalling pathway. A cross-sectional study was undertaken to ascertain whether an endogenous sclerostin circadian rhythm exists in healthy individuals.Subjects and methods: Six healthy young men with normal BMD were a...