Endocrine Abstracts

Background: Hypertension is common in adults with Turner Syndrome (TS) but less is known about hypertension in children with TS.Aim: To determine the frequency of hypertension in a contemporary paediatric TS cohort and to assess its association with clinical characteristics.Patients and methods: Preliminary analysis of 22 girls with TS attending a designated TS clinic at RHC, Glasgow, with at least 2 blood pressure measurements in ...

Introductions: Gender Identity Disorder (GID) occurs when a person’s gender identity differs from their biological sex, causing distress (gender dysphoria). GID presenting in childhood can dissipate at puberty. If it persists, they may progress to physical interventions. This involves the use of a GnRH analogue (GnRHa) for one year followed by cross sex hormones.Methods: As part of the clinical assessments, adolescents have body composition measurem...

Introduction: Congenital hyperinsulinism (CHI) is a rare genetic disorder of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia & permanent neurological deficit if not managed appropriately. Kenotic hypoglycaemia (KH), a diagnosis of exclusion, is by far the most common form of hypoglycemia in children between 1–5 years of age characterized by recurrent episodes of hypoglycaemia and ketosis.Aim: To ide...

Vitamin D deficiency can cause serious health complications in both adult and children. Recent studies have shown a high prevalence of vitamin D deficiency in children worldwide. Despite the abundance of sunlight in the Middle East, many research groups have confirmed alarming rates of vitamin D deficiency in Middle Eastern population; however vitamin D status among Middle Eastern countries is rarely investigated.For the first time, this study compared v...

We present the data from cases of hyperinsulinemia that were seen and diagnosed in a district general hospital over a five year period. The cohort included babies with congenital hyperinsulinism (CHI). In the paediatric age group, several were associated with obesity (insulin resistance) group and there was a case on insulinoma....

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. CHI arises from mutations in ion channel genes (ABCC8/KCNJ11), which lead to inappropriate insulin secretion. CHI is also associated with increased cell proliferation and altered islet cell development. The aim of this study was to investigate the composition of the islet capsule in CHI and to relate this to the organisation of islet cells.</p...

Background: Congenital Hyperinsulinism in Infancy (CHI) is characterised by inappropriate insulin release from islet β-cells. We currently attribute hypoglycaemia to β-cell dysfunction because of defects in the ion channel genes ABCC8 or KCNJ11. However, the CHI pancreas is also associated with the inappropriate expression of foetal-like transcription factors and enhanced cell proliferation. We hypothesised that islet cell differentiation and neogen...

Background: Congenital Hyperinsulinism (CHI) is a disease of severe hypoglycaemia due to insulin hypersecretion, that can be recognised either early or late in childhood. CHI is associated with adverse neurodevelopmental outcomes. The Vineland Adaptive Behaviour Scales Second Edition (VABS-II) is a parent-report measure of intellectual and developmental functioning, which could be used to screen children with CHI for impairments.Aims: To investigate reli...

Background: The mechanisms responsible for inappropriate insulin release from β-cells in Congenital Hyperinsulinism in Infancy (CHI) have largely focused upon defects in KATP channels. Little is known about insulin biogenesis, the profiles of insulin in insulin-containing secretory granules or whether the impact of KATP channel defects (due to mutations in ABCC8 or KCNJ11) is the same in diffuse- and focal disease.<p class="abst...

Introduction: Recently, the factory calibrated FreeStyle Libre (FSL) flash glucose monitoring system has been introduced for use in patients with diabetes mellitus. We assessed the accuracy of FSL compared to the finger prick capillary blood glucose (CBG) over a 2 week period in patients with congenital hyperinsulinism (CHI) and assessed the parents’ experience of using FSL.Methods: About 346 episodes of CBG along with corresponding swipe FSL readin...

Introduction: Congenital hyperinsulinism (CHI) is a disesase of severe hypoglycaemia, often due to in mutations in ABCC8/KCNJ11. Sirolimus, an mTOR inhibitor, has been reported to be successful in CHI patients, but the evidence is limited. We have aimed (i) to review the efficacy and safety profile of sirolimus, (ii) to assess the role of mTOR signalling pathways in CHI, (iii) to assess the impact of sirolimus in CHI pancreatic tissue.Methods: P...

Introduction: Congenital Hyperinsulinism (CHI) is a heterogeneous condition caused by dysregulation of insulin secretion. Paternally inherited mutations in ABCC8 or KCNJ11 are associated with loss of the maternal 11p15 allele in focal CHI (CHI-F). CHI-F can be curative after selective lesionectomy. However, histological heterogeneity within the CHI-F lesions has not been previously reported. We aimed to examine the diversity in focal lesions and correlate wit...

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...

Introduction: Generalised lipodystrophy is clinically characterised by lipoatrophy, hepatomegaly, hypertriglyceridemia, insulin resistance and acromegaloid features. It is recognised that diencephalic syndrome is a rare presentation of hypothalamic tumours in infants and young children. Children with this disorder have profound emaciation and generalised loss of subcutaneous fat, growth acceleration, hyperkinesia and euphoria. Hypothalamic tumours, particularly pilocytic astro...