Endocrine Abstracts

Contents

• CME Training Day Sessions
• • CME Symposium 1
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  • CME Symposium 2
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  • CME Symposium 3
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  • CME Symposium 4
  • • Fertility preservation and when to refer? (male fertility)

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• Plenary Lectures
• • Plenary Lectures
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• Symposia
• • CEW (Obesity) Symposium
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  • Endocrine Symposium 1
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  • Endocrine Symposium 2 (Nurses/Endocrine Professionals Session)
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  • Endocrine Symposium 3
  • • AI-powered breakthroughs in paediatric endocrinology

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    • Benchmarking in paediatric endocrinology

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  • Diabetes Symposium 1
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  • Diabetes Symposium 2
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    • Past, present and future of closed loop

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  • Diabetes Symposium 3
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• How Do I?
• • How Do I? (Endocrine)
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    • The endocrine approach to childhood hypoglycaemia

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  • How Do I? (Diabetes)
  • • How Do I? Support exercise and sports performance in T1D

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• Debate
• • Debate
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• Personal Practice Session
• • Personal Practice Session
  • • Management of abnormal TFTs - when to hold your nerve?

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• Oral Communications
• • CME Case Presentations 1
  • • Phenotypic diversity in siblings with a rare cause of Hypophosphataemic rickets

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    • A case of kearns-sayer syndrome presenting with hypoglycaemia and adrenal insufficiency

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  • CME Case Presentations 2
  • • Facial asymmetry revealing hypothyroidism and pituitary hyperplasia in a young child

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    • 16 Years of learning: the first patient treated with asfotase alfa for perinatal hypophosphatasia

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  • CME Case Presentations 3
  • • 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

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    • Diabetes and deafness: not just wolfrom

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  • CME Case Presentations 4
  • • Reassessing pancreatectomy in diffuse congenital hyperinsulinism: a tale of two brothers with homozygous KCNJ11 variants

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    • An unusual presentation of paediatric sarcoidosis

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  • Endocrine Oral Communications 1
  • • BRINP2 gene variants are implicated in severe delayed puberty associated with neurodevelopmental phenotypes

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    • Minipuberty: a golden phase for optimal treatment. recombinant gonadotropin therapy during minipuberty in males with hypogonadotropic hypogonadism: a case series

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    • Crinecerfont in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: results from the phase 3 CAHtalyst pediatric study

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    • Premature adrenarche, body composition and metabolic dysfunction - a pilot study

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    • Glucocorticoid replacement therapy in congenital adrenal hyperplasia and its associations with growth outcomes - real world data analysis from an international cohort of 1500 patients

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    • Diagnostic testing using gene panels for severe childhood growth failure and multiple pituitary hormone deficiency in England

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    • A novel human disorder: QSOX2 deficiency-induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease

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    • Oral risedronate therapy in duchenne muscular dystrophy: the john walton muscular dystrophy centre experience

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    • Genomic diagnoses in DSDs - 10-year experience from a regional DSD service

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  • Endocrine Oral Communications 2
  • • DXA lean mass index as a predictor of loss of ambulation in duchenne muscular dystrophy and potential biomarker to initiate osteoporosis therapy prior to fractures

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    • BSPED audit of clinical standards for differences of sexual development (DSD)

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    • Systematic review of cardiometabolic outcomes in young people with gender dysphoria and the impact of puberty blockers

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    • Low-level chromosomal mosaicism does not explain the spontaneous menarche seen in some women with 45,X turner syndrome

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    • Rare causes of silver-russell syndrome frequently present with atypical features highlighting important implications for genetic testing and clinical management

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  • Diabetes Oral Communications 1
  • • Does severity of DKA presentation associate with autoantibody status, deprivation or ethnicity - a two-centre retrospective cohort

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    • A regional audit of diabetic ketoacidosis (DKA) presentations at diagnosis of type 1 diabetes (T1DM) and DKA management

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    • Glycaemic control of children and young people with type 1 diabetes fasting during ramadan at a single london paediatric diabetes unit

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    • Short term outcomes for children with new onset diabetes and confirmed SARS-CoV-2 Infections - a case series

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    • Comparison of glycaemic control across different ethnic and socioeconomic groups in a cohort of children using hybrid closed loop systems

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  • Endocrine Oral Communications 3
  • • A retrospective analysis of anti-tpo results in infants with an abnormal congenital hypothyroidism neonatal screening

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    • Thyroid dysfunction in patients diagnosed with neuroblastoma who received MIBG scans

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    • Psychological and social characteristics of children and young people living with obesity in portsmouth and southampton

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    • Impact of specialist psychology provision and outcomes for a DSD service

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    • The effect of CFTR modulators on growth, body composition and bone health in children and adolescents with cystic fibrosis

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  • Diabetes Oral Communications 2
  • • Award-winning virtual schools training package creates capacity to enable 78% of children to access hybrid closed loop therapy

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    • Improving access to diabetes technology for CYP with diabetes across NENC: a response to poverty proofing, the national paediatric diabetes audit and the NHSE CORE20PLUS5

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    • Tackling health inequalities, engagement opportunities and metabolic management in young adults living with diabetes - transition safe and sound (TraSS), an NHS england pilot

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    • Working above and below the lines: paediatric diabetes health care professionals' experiences of safeguarding and child protection

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    • Socioeconomic status influencing the cessation of insulin pump therapy in children with type 1 diabetes: a cohort study

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    • Does admission for stabilisation affect HbA1c? a single trust study

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    • Improving equity of care within a paediatric diabetes service

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    • Understanding the lived experiences of the development and maintenance of Disordered Eating Behaviours (DEB) in Type 1 Diabetes (T1D) in paediatric diabetes care

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    • Young people and parent or carers views on type 2 diabetes mellitus care in england and wales - insights from the PREM survey report

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  • Endocrine Oral Communications 4
  • • Health-related quality of life in severe obesity: baseline PedsQL scores from two tier 3 paediatric weight management services

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    • The effect of lifestyle and pharmacological interventions on body composition in childhood obesity

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    • Increased prevalence of hypertension in paediatric turner syndrome

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    • Education of sick day management of paediatric adrenal insufficiency: a national survey of paediatric endocrine nurse specialists

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    • Single-centre review of use of gonadotrophin-releasing hormone agonists - are we outliers?

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    • Audit of pituitary dysfunction post moderate to severe traumatic brain injury and proposed surveillance guidance

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• Poster Presentations
• • Adrenal 1
  • • CYP11A1 deficiency in a boy with normal genitalia - a rare case report

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    • Predictive factors for adrenal recovery in paediatric patients following high-dose glucocorticoid therapy: a retrospective cohort study

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    • X-linked adrenoleukodystrophy: atypical case of adrenal insufficiency masked by neurodivergence

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    • Parent perspectives to improve home management of childhood adrenal insufficiency

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    • Advanced bone age and early puberty in an adolescent boy with melanocortin-2-receptor gene mutation

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    • Adipokine analysis in relation to the glucocorticoid dose and androgen concentrations in the paediatric CAH-UK cohort

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    • Prematurity and low birth weight are associated with a low peak cortisol on neonatal short synacthen tests

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  • Bone 1
  • • Changes in lean mass and fat mass in children with osteogenesis imperfecta

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    • Congenital hypothyroidism mimicking spondyloepiphyseal dysplasia

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    • Management of osteoporosis in duchenne muscular dystrophy: results of an international clinician survey

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    • The use of testosterone for delayed puberty in adolescents with duchenne muscular dystrophy: an international clinician survey

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    • A case of idiopathic hypoparathyroidism in a teenager

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    • Bones starving for attention: hungry bone syndrome after treatment for rickets

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  • Diabetes 1
  • • Diabetic retinopathy screening in laotian children with diabetes: a collaboration between singapore national eye centre and action4diabetes

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    • Exploring perspectives of children and young people with type 1 diabetes in laos: moving beyond twice daily insulin to multiple daily regimens"

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    • Diabetes outcomes and youth engagement: assessing transition readiness interventions in an NHS england transition pilot site

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    • The management of intentional insulin overdose in type 1 diabetes: a case presentation

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    • Technology usage and glycaemic outcomes in an ethnically diverse and socioeconomically deprived cohort of children with type 1 diabetes mellitus

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    • Age-related outcomes of hybrid closed-loop systems in children with type 1 diabetes

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    • Increasing confidence in managing diabetes in the paediatric emergency department

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    • Real-world performance of the omnipod^® 5 automated insulin delivery system in >6,600 children, adolescents, and young adults with type 1 diabetes in the united kingdom

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  • Diabetes 2
  • • HCL use does not cause increased insulin use or change in BMI z-score

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    • Case report of a patient with a biallelic variant in glucokinase (GCK) gene causing maturity onset diabetes of the young

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    • Experience of a 'non type 1/medically complex type 1' patient clinic in a tertiary paediatric diabetes centre

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    • Triple autoantibody negative patients in lanarkshire paediatric diabetes service

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    • Atypical presentations of new onset diabetes - a possible cause of delayed diagnosis

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    • New onset diabetes and diabetic ketoacidosis in children - a single centre study

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    • How was your experience! diabetes transition survey

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    • A review of screening tools for disordered eating in type 1 diabetes to inform the development of children and young peoples diabetes (CYPD) network guidelines

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  • Diabetes 3
  • • Understanding staff views on current variation in provision of diabetes technology for children and young people with diabetes: a qualitative service evaluation

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    • 'Hybrid closed loop pathway'- a quality improvement project utilising existing resources whilst meeting the demands of a merged service

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    • 'Organisational change'- a quality improvement project to utilise existing budget to provide a nursing service and equitable care across 2 sites

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    • The digibete patient support app; implementation and evaluation outcomes of the scottish pilot

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    • Onboarding and beyond - the quantitative and qualitative benefits of skill mix in a diabetes team

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    • Looping forward in diabetes

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    • Use of a hybrid closed loop system in a child with end stage renal disease, GAD positive diabetes and recurrent pancreatitis - a game changer!

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    • 'Sick day ketones in childhood diabetes' an audit reviewing and comparing inpatient management of children presenting unwell to oxford university hospital 2022-2023, with ISPAD guidelines

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  • Gonadal, DSD and Reproduction 1
  • • Psychology provision is the mainstay of care for mayer-rokitansky-kuster-hauser syndrome presenting in childhood

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    • Validation of a new short parent reported outcomes (PRO) questionnaire for boys with a condition affecting sex development

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    • A systematic review of core outcomes reported in boys and men with klinefelter syndrome

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    • Pseudo-precocious puberty in children exposed to exogenous sex hormone: case report series

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    • Illustrating the genomic complexity of DSDs - series from a regional DSD service

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    • Clinical presentation according to genotype in 5[alpha]-reductase 2 deficiency

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  • Miscellaneous/Other 1
  • • Establishing a nurse-led transition clinic for young people with congenital adrenal hyperplasia (CAH): quality improvement project

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    • Evaluating transition in osteogenesis imperfecta in the west of scotland

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    • A novel mutation in the AVPR2 gene causing congenital nephrogenic diabetes insipidus

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    • Hypoketotic hypoglycemia and hypoparathyroidism in medium chain Acyl-CoA dehydrogenase deficiency (MCADD) caused by ACADM mutation-rare

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    • Caught before a crisis, but is there more to come?

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    • Don't just correct for the glucose: the electrolyte exclusion effect

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    • Safety and efficacy of 18F-DOPA PET/CT scan under oral sedation in children with congenital hyperinsulinism

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    • Central hypoventilation syndrome with hyperinsulinism in infancy - management challenges

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    • Outcomes of children presenting with signs of early puberty to a tertiary paediatric endocrinology service

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  • Obesity 1
  • • Comparison of insulin sensitivity measures between overweight and obese children and adolescents of south asian and white caucasian ethnicity

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    • Diagnostic yield of a genetic testing pathway for severe early-onset obesity

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    • Assessment of glucose homeostasis and insulin sensitivity in young people with duchenne muscular dystrophy

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    • Piloting a new nursing and psychology led group session for patients starting wegovy (Semaglutide) in a specialist endocrine weight management service

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    • Socioeconomic inequalities in severe childhood obesity: findings from a tier-3 paediatric weight management service

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    • Body composition, complications, and quality of life outcomes from a tier-3 paediatric weight management service

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    • Retrospective review of sleep disordered breathing in children with prader-willi syndrome

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  • Pituitary and Growth
  • • Pituitary stalk interruption syndrome (PSIS) in a newborn with PROP1 mutation

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    • Pubertal development and bone growth following discontinuation of testosterone therapy for management of delayed puberty in glucocorticoid treated young adults with duchenne muscular dystrophy

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    • Spectrum of endocrinopathies in children with ectopic posterior pituitary correlates with severity of associated hypothalamo-pituitary abnormalities on imaging: decade long experience from two tertiary centres

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    • Accuracy of arginine testing as first test for diagnosing growth hormone deficiency in children

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    • Clinical assessment for and response to growth hormone in a tertiary paediatric endocrine service: social and gender factors

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    • A single-centre retrospective study looking at copeptin levels in children and young people who underwent water deprivation test

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    • Effect of recombinant growth hormone therapy in chromosome 15q26.3 deletion encompassing the IGF1R

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    • To evaluate how a dose of 0.10units/kg vs 0.15units/kg of insulin affects the success rate of the ITT in pubertal children

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  • Adrenal 2
  • • Analysis of real-world data on the care provision of children with congenital adrenal hyperplasia (CAH) in the united kingdom

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    • An audit of the treatment needs and outcomes against patient population demographics of children with congenital adrenal hyperplasia in greater manchester

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    • A quality improvement project to improve the management of paediatric patients at risk of adrenal crisis in a district general hospital

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    • Pseudohyperkalaemia in congenital adrenal hyperplasia - a challenge for clinicians

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    • A challenging case of a teenager with metastatic neuroendorine tumor

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    • A case report of a secreting benign adrenal tumour in a patient with congenital adrenal hyperplasia

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    • Fluconazole induced 11[beta]-hydroxylase inhibition

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    • Outcome of random cortisol measurement in infants <30 days old

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  • Bone 2
  • • The acceptability of preventative bisphosphonate therapy prior to fracture: perspectives of young people with duchenne muscular dystrophy, parents/carers and health professionals

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    • Parathyroidectomy in paediatric sporadic primary hyperparathyroidism

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    • Safety and efficacy of long-term continuous subcutaneous PTH (1-34) infusion therapy (CSPI) for severe autosomal dominant hypocalcaemia type 1 (ADH1) in children and young people

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    • A case of intractable infant hypocalcaemia due to GCM2-mutation linked hypoparathyroidism

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    • A late presentation of autosomal dominant hypocalcemia type 1 (ADH1)

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    • Management of prolonged refractory hypercalcaemia secondary to denosumab cessation: a case presentation

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    • Cardiovascular risk and achondroplasia: a systematic review

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  • Diabetes 4
  • • Audit of management of diabetic ketoacidosis in children and young people at the noah's ark children's hospital for wales

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    • Aniridia and glucose intolerance associated with PAX6 mutation; MODY, T1D or both?

      ea0103p84
    • A clinical audit exploring the relationship between HbA1c control and appointment adherence among young adult diabetes clinic patients

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    • High rate of initial presentation in severe DKA: is obesity a risk factor for presentation in severe DKA in young people

      ea0103p86
    • Insulin oedema in paediatrics diabetes: a case report and clinical reflection

      ea0103p87
    • Initial results of effectiveness of a hybrid closed loop system via omnipod 5 and dexcom g6 system on glycaemic control

      ea0103p88
    • Using existing data to support the CYP diabetes healthcare community to fully understand their patient population and tackle health inequalities in line with NHSE CORE20PLUS5

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    • Does real time continuous glucose monitoring improve glycaemic control in patients with Wolfram syndrome and insulin dependent diabetes mellitus?

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  • Diabetes 5
  • • Strategizing early detection and follow-up for type 1 diabetes: The EDENT1FI project

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    • Dinky-betes: a multi-disciplinary clinic for the under 7's

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    • Factors associated with diabetic ketoacidosis in patients with intensive use of continuous glucose monitoring

      ea0103p93
    • Establishing clinical follow-up in early-stage pre-symptomatic type 1 diabetes: results from the oxford pre-T1D clinical service

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    • How many children are out there? A BSPED survey of children and young people with early-stage type 1 diabetes

      ea0103p95
    • Endocrine dysfunction following positive thyroid and adrenal antibodies in children with newly diagnosed type 1 diabetes

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    • Review of glycaemic control in type 1 diabetes patients following change from standardised insulin pump to hybrid closed loop

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    • Type 2 diabetes mellitus in children and young people: a single uk paediatric diabetes centre experience

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  • Diabetes 6
  • • Type 1 diabetes and glut1 transporter deficiency syndrome: a case report

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    • Werner syndrome - a rare presentation with acanthosis nigricans

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    • An analysis of the presence of vascular complications from type 1 diabetes mellitus based on ethnicity and deprivation quintile in a single centre

      ea0103p101
    • Pizza party socials for young people with diabetes and their families to promote peer support and education

      ea0103p102
    • Understanding paediatric DKA risk at university hospital bristol NHS foundation trust

      ea0103p103
    • Identifying barriers to technology use in children and young people (CYP) with type 1 diabetes

      ea0103p104
    • Outcomes from hybrid closed-loop therapy in children and young people with type 1 diabetes at leeds children's hospital

      ea0103p105
    • Searching for hidden MODY in a paediatric diabetes clinic - a clinical review

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  • Gonadal, DSD and Reproduction 2
  • • First description of kisspeptin unresponsive hypogonadotrophic hypogonadism, anosmia with olfactory hypoplasia (kallmann syndrome) and obesity due to an MC4R variant

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    • Towards best practice therapies for patients with gonadotropin deficiency in minipuberty and puberty

      ea0103p108
    • The link between non ketotic hyperglycinaemia (NKH) and precocious puberty in a young child: -a case report

      ea0103p109
    • The mini-puberty that occurred too late

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    • A double-edged sword: tough decisions for a young person

      ea0103p111
    • Clinical decision making based on LHRH test: an audit of practice in a tertiary center

      ea0103p112
    • Standardisation of care for boys with 47,XXY in the west of scotland

      ea0103p113
  • Miscellaneous/Other 2
  • • Diazoxide hypersensitivity in neonatal hyperinsulinism due to HNF4A variants

      ea0103p114
    • Enzymes in endocrinology: gynaecomastia in a 5 year old boy

      ea0103p115
    • Looking beyond the obvious in a case of precocious puberty

      ea0103p116
    • Optimising risk stratification for aortopathy in turner syndrome using aortic size index

      ea0103p117
    • Hypoglycemia during treatment of acute lymphoblastic leukaemia [ALL] in children: case report series

      ea0103p118
    • Genotes for clinicians - a genomic testing resource for paediatric endocrinologists

      ea0103p119
    • Usefulness of freestyle libre 3 CGM in detecting hypoglycaemia in two infants with diazoxide non-responsive hyperinsulinism

      ea0103p120
    • Management strategies and patient outcomes of congenital hyperinsulinism (CHI) related with beckwith-wiedemann syndrome (BWS) - insights from an CHI highly specialized centre

      ea0103p121
    • Safety of lanreotide in infants with congenital hyperinsulinism

      ea0103p122
  • Obesity 2
  • • Ethnicity, deprivation and bmi outcomes: experience from a paediatric complications of excess weight service (CEW) in the UK

      ea0103p123
    • Use of medical technology and daily weight measurements in the management of severe childhood obesity

      ea0103p124
    • Health-related quality of life scores in children and young people with obesity following intervention and support from a tertiary mdt weight management service

      ea0103p125
    • Management of early onset obesity due to melanocortin 4 receptor (MC4R) defect with glucagon- like -peptide receptor agonist

      ea0103p126
    • A group exercise programme tailored for a tertiary paediatric weight management service: patient and parent experience

      ea0103p127
    • The challenges of managing hypothalamic obesity in childhood

      ea0103p128
    • First year outcomes in a paediatric complications of excess weight (CEW) service

      ea0103p129
  • Thyroid
  • • Profile and management of thyroid disease in children and young people (CYP) attending type 1 diabetes clinics in southern health and social care trust (SHSCT)

      ea0103p130
    • Role of thyroid scintigraphy in the etiologic workup of congenital hypothyroidism

      ea0103p131
    • Challenges & uncertainties with intra-uterine thyroxine treatment for a significant foetal goitre - a case report

      ea0103p132
    • A rare case of chronic diarrhoea: medullary carcinoma of the thyroid

      ea0103p133
    • Renal impairment: to refer or not to refer to endocrinologist?

      ea0103p134