ESPE Abstracts

Background: Case reports have documented variable glycaemic response to the mTOR inhibitor Sirolimus in severe diazoxide+/−octreotide unresponsive forms of congenital hyperinsulinaemic hypoglycaemia (CHI). A high incidence of adverse effects has been reported in patients receiving this medication.Objective(s): To describe the efficacy and safety of Sirolimus use over a 5-year period in the largest cohort of CHI patients treated to date.<p class...

Introduction: Post-prandial hyperinsulinaemic hypoglycaemia (PPHH) is a recognised complication of various gastric surgeries in children, but rarely reported after oesophageal atresia repair. We report two children diagnosed with PPHH post-oesophageal surgery and the challenges of their management.Case 1: A 2-year-old boy diagnosed with oesophageal atresia at birth, was surgically repaired requiring six oesophageal dilatations the first year of life. At ...

Introduction: ACTHd is life-threatening and difficult to differentiate from ACTH suppression (ACTHs) especially in CYP receiving perioperative corticosteroids. In our experience, this is always the most robust anterior pituitary hormone to brain injury, whilst GH deficiency (GHd) is the first and LH/FSHd and TSHd intermediate in hierarchy. We previously showed HPA axis recovery at 3.08 (2.38–10.33) years after cortiscosteroid therapy for ACTHd in 13.6% of 44 CYP with cran...

Introduction: Childhood prolactinomas often occur as aggressive macro (1–4 cm) or giant (>4 cm) tumours, with little consensus regarding timing of optimal therapies.Aim: To highlight the phenotype and treatment outcome of childhood macroprolactinomas.Subjects and methods: Case-note review of 10 (five male) children (<18 years) (presenting to our centre between 2009 and 2017 with hyperprolactinaemia due to macro/giant-p...

Background: Nonsurgical development of nasal cerebrospinal fluid (CSF) leaks may occur in the setting of pituitary adenomas, especially following a favorable response of invasive prolactinomas to initiation of Dopamine Agonist (DA) therapy, but this has not previously described in children.Case description: A girl of Srilankan origin, aged 13.8 years, whose parents spoke no English, presented with headaches and secondary amenorrhea. Pituitary MRI reveale...

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...

Background: Hypoglycaemic episodes in patients with Congenital Hyperinsulinism (CHI) are not always detected due to the intermittent measurement of blood glucose concentrations, particularly the asymptomatic episodes. Detecting and treating these episodes is important for prevention of hypoglycaemic brain injury. Although the Continuous Glucose Monitoring System (CGMS) is widely used in adults and children with diabetes, the use in patients with CHI remains li...

Background: Lanreotide, a prolonged-release somatostatin analogue, has been utilized off-label for nearly a decade to treat cases of congenital hyperinsulinism (CHI) that do not respond to diazoxide. Acute side-effects of Lanreotide include diarrhoea and topical allergic reactions. Long-term effects include hepatitis, gallstones, growth suppression, hypothyroidism and gastrointestinal dysmotility. However, limited number of case series have documented the long...

Background: Congenital hyperinsulinism (cHI) is characterized by recurrent, persistent hypoglycemia due to dysregulated insulin secretion from dysfunctional pancreatic beta cells. Hypoglycemia in combination with hypoketonemia can cause irreparable brain damage including lifelong neurologic impairments, seizures, and death. Avoidance of life-threatening hypoglycemia around-the-clock via vigilant glucose monitoring and frequent interventions, places immense psy...

Introduction: Congenital adrenal hyperplasia (CAH) describes a rare group of inherited conditions caused by enzyme defects within the steroid biosynthesis pathway. 21-hydroxylase deficiency accounts for approximately 95% of cases. The prevalence of even rarer forms of CAH varies according to geographical location and ethnicity.Aims: To report the clinical characteristics of rare forms of CAH under the care of a tertiary ...