Endocrine Abstracts

The recently (2015) revised American Thyroid Association guidelines for the management of differentiated thyroid cancer recognise the importance of histological subtype in risk stratification. The prevalence of thyroid cancer subtypes in an Irish population is unknown. We reviewed all histology reports of thyroid carcinoma from a quaternary referral centre over a 10 year period, 2005 to 2015. 675 reports were reviewed. Of these, 87% were reported as papillary thyroid cancer (P...

Introduction: Several previous case reports have described the use of the calcium-blocker Nifedipine for the treatment of hyperinsulinaemic hypoglycaemia (HH). These cases are a collection of transient/permanent forms of HH, with known/unknown genetics, where Nifedipine has been used either as monotherapy or in combination with other medications. There have been no previous reports of any systematic trial of Nifedipine use in patients with HH due to mutations in the ABCC8<...

Background: GH insensitivity (GHI) presents with growth failure, IGF-1 deficiency and normal/elevated GH (basal >5 μg/l and/or peak >10 μg/l). GHI encompasses a spectrum of clinical and biochemical abnormalities. Associations between phenotypic characteristics and genetic defects remain obscure.Objective: Identify phenotypic predictors of underlying genetic defects in GHI.Methods: In total of 102 children (62M) me...

Introduction: Adrenal insufficiency is a rare cause of life-threatening hyponatraemic collapse in the neonatal period. The initial investigations taken at the time of presentation, and prior to the institution of hydrocortisone, are a key step in the diagnostic pathway.Aim: We present a case series where the initial biochemical test results could have led to a delay in diagnosis or early discontinuation of hydrocortisone.Ca...

Background: Nutritional rickets (NR), due to poor dietary calcium intake or vitamin D deficiency is still the most common form of growing bone disease despite the efforts of health care providers to reduce its incidence. Clinical history, physical examination and laboratory evaluation are mainstay of diagnosis.Aim: We report a case of NR where the radiological report was misleading causing significant parental anxiety and delay in diagnosis.<p class=...

Introduction: Parents of children with complex diseases require easily understandable information about their disease to improve health outcomes. Improved disease understanding will also aid shared decision making between clinicians and families. Congenital hyperinsulinism (CHI) is a rare and complex disease of hypoglycaemia associated with significant neurodevelopmental morbidity for which online video-sharing information resources are available. The utility of such informati...

BackgroundArtificial intelligence algorithms can be used in classification of thyroid nodules to reduce subjectivity. External validation on images collected from different ultrasound machines and other institutions are vital before wider use of these algorithms. We retrospectively analyzed the performance of AIBx on thyroid nodules with surgically proven pathology.Materials and methodsPatients harboring thyr...

IntroductionParagangliomas (PGLs) are neuroendocrine tumours that arise from neural crest-derived chromaffin cells. They can develop anywhere these cells exist from the base of the skull to the pelvis. All PGLs have neuro-secretory potential and can produce symptoms due to catecholamine excess. While the majority are benign they do have malignant potential. Mediastinal PGLs are rare and often have a strong genetic predisposition. A higher proportion of t...

Endocrine nursing practice has been changing, with the advent of more autonomous roles, involving nurse led clinics and independent prescribing, with more complex clinical case management. However, recent research highlights the emphasis on optimum patient care, but scope of practice is not always clear, leading to unequal balance in skills and capabilities, qualifications, and Agenda for Change (AfC) bandings. This study explored the remit, job components, and capabilities of...

Aim: We describe the natural history, treatment, and clinical outcomes of Multiple Endocrine Neoplasia type 2B (MEN2B) caused by the M918T RET pathogenic variant.Methods: Retrospective case notes review of all young people <18 years presenting to a quaternary paediatric endocrinology referral centre in the UK between 2005-2023 who have MEN2B caused by the M918T pathogenic variant in the RET proto-oncogene.<p clas...