Searchable abstracts of presentations at key conferences in endocrinology

ea0051s1.2 | Endocrine Track 1: Symposium 1 | BSPED2017

Congenital hypothyroidism – lessons from a tertiary service

Peters Catherine

Congenital hypothyroidism (CH) occurs due to dysgenesis or dyshormonogenesis of the thyroid gland. Newborn screening for CH was introduced in the UK over 30 years ago and has almost eliminated the severe intellectual deficits caused by the deficiency of thyroxine to the developing brain. The recognised incidence of CH increased immediately post introduction of screening due to the improved detection and diagnosis of cases. However, further increases in the incidence of CH have...

ea0039ep41 | Diabetes | BSPED2015

Variation in 24-h basal insulin requirements with age in children and young people with type 1 diabetes mellitus

Peters Catherine , Hindmarsh Peter

Introduction: Insulin requirements change with age, in part related to changes in Growth Hormone secretion. Little is known of the impact of age on the circadian variation in insulin secretion. We have studied changes in insulin basal rates as a proxy for insulin sensitivity in CYP with well controlled T1DM.Methods: Insulin pump settings for total daily dose (TDD) and sensitivity ratio were obtained from 22 CYP with T1DM. Basal insulin requirements were ...

ea0039ep126 | Thyroid | BSPED2015

Neonatal thyrotoxicosis – a single centre case series

Langham Shirley , Hindmarsh Peter , Peters Catherine

Introduction: Neonatal thyrotoxicosis is rare and occurs with transfer of Thyrotropin Receptor Antibodies (TRAb) across the placenta in a mother with a history of Grave’s disease. The neonatal mortality rate can be as high as 20%, usually secondary to cardiac failure. Therefore prompt diagnosis and treatment is essential.Methods: We report a series of seven infants with neonatal thyrotoxicosis seen in the Endocrine clinic between 2011 and 2015. Mate...

ea0033oc1.2 | Oral Communications 1 | BSPED2013

A single centre audit of the 2012 UK Newborn Screening Programme Guidelines for pre-term infants

Woods Gemma , Langham Shirley , Peters Catherine

Newborn screening of premature infants for congenital hypothyroidism (CH) may initially be normal despite the presence of thyroid pathology and therefore repeat TSH screening is required. The 2012 revised UK Newborn Screening guidelines for premature infants state that infants born <32 weeks gestation require a repeat TSH bloodspot at 28 days postnatal age or discharge home, whichever is earlier. Prior to this, repeat testing was required at 36 weeks corrected gestation fo...

ea0045p72 | Thyroid | BSPED2016

Congenital hypothyroidism in vein of galen malformation patients

Langham Shirley , Toolis Claire , Peters Catherine

Introduction: Vein of Galen (VoGM) is a rare intracerebral vascular anomaly which may be detected on antenatal imaging or present in the neonatal period with secondary cardiac failure. A potential association with congenital hypothyroidism was examined.Investigation: Between the seven months of October 2015 and May 2016 six infants with VoGM were treated at our tertiary centre. Three (50%) were also referred through Congenital Hypothyroidism (CHT) Newbor...

ea0085p42 | Pituitary and Growth 1 | BSPED2022

The endocrine phenotype of SWI/SNF-associated coffin-siris syndrome includes pituitary endocrinopathies, pituitary hypoplasia, and septo-optic dysplasia

McGlacken-Byrne Sinead , Wakeling Emma , Peters Catherine , Dattani Mehul

Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which often arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrine abnormalities previously associated with this disorder include idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. We describe the endocrine features and associated radiological find...

ea0066p82 | Thyroid | BSPED2019

Siblings with multinodular goiter and autoimmune thyroiditis

Sotiridou Ellada , Kurzawinski T , Peters Catherine , Brain Caroline

Introduction: It has been documented that autoimmune thyroiditis (AT) predisposes to the development of papillary thyroid cancer (PTC). The presence of chronic inflammation was thought to act as an initiating factor in carcinogenesis. Moreover elevated levels of TSH found in hypothyroid patients with AT were speculated to stimulate follicular epithelial proliferation and thereby promote the development of PCT.Case: We describe a case of two sisters aged ...

ea0039ep58 | Diabetes | BSPED2015

Acute hyperglycaemia in cystic fibrosis related diabetes: the role of insulin pumps

Drew Samantha , Margetts Rebecca , Gordon Hannah , Peters Catherine

Cystic fibrosis related diabetes (CFRD) is the commonest co-morbidity in CF leading to increased mortality rates. The pathophysiology includes pancreatic fibrosis, reduction in α and ß-cell mass, delayed insulin secretion and variable insulin insensitivity. Insulin production can fluctuate with progression over time to an insulinopenic state. We report two cases of young people with CFRD with high insulin requirements, poor glycaemic control and improvement with the ...

ea0027p26 | (1) | BSPED2011

Thyroid isotope scans: can it predict transient or permanent hypothyroidism in babies with borderline TSH values on screening test?

Ghule Shwetal , Biassoni Lorenzo , Langham Shirley , Peters Catherine

Introduction: Neonatal biochemical screening programmes for congenital hypothyroidism (CH) allow early diagnosis and treatment of infants with CH, thereby efficiently preventing mental retardation. The purpose of the study was to assess the predictive role of Tc-99m pertechnetate thyroid scintigraphy in differentiating between transient and permanent hypothyroidism in neonates with borderline TSH results (6–19.9 μ/l) at the screening.Methods: A...

ea0027p53 | (1) | BSPED2011

An unusual case of type 1 diabetes mellitus and autoimmune limbic encephalitis

Tziaferi Vaitsa , Ng Joanne , Peters Catherine J , Carr Lucinda

Introduction: T1DM is an autoimmune condition. At diagnosis, 80% of patients have positive glutamic-acid decarboxylase antibodies (GADA). We report a case of T1DM diagnosed 1 year after the onset of autoimmune limbic encephalitis (LE).Case: A 13-year-old female was diagnosed with voltage-gated-potassium channel (VGKC) positive LE after presenting with complex partial seizures and auditory hallucinations. A year later and prior to the diagnosis of diabete...