hrp0089p2-p058 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Validation of an Automated Method (BoneXpert) for the Determination of Bone Age in Paediatric Endocrinology – A Single Centre Experience

Calder Alistair , Dastamani Antonia , Spoudeas Helen , Dattani Mehul

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...

hrp0089p2-p107 | Diabetes & Insulin P2 | ESPE2018

Congenital Hyperinsulinism in a Child with Alagille Syndrome

Khan Durray Shahwar , Dastamani Antonia , Antell Hannah , Shah Pratik

Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...

hrp0086lbp4 | (1) | ESPE2016

Sirolimus Precipitating Diabetes in a Patient with Congenital Hyperinsulinism due to Autosomal Dominant ABCC8 Mutation

Dastamani Antonia , Guemes Maria , Shah Pratik , Hussain Khalid

Background: Studies have suggested that sirolimus might be diabetogenic, mostly in kidney transplant recipients. Sirolimus has now been shown to be effective in the management of patients with congenital hyperinsulinism (CHI). However to date, there are no publications regarding the diabetogenic effect of Sirolimus in CHI patients.Objective and hypotheses: To report the first case of sirolimus precipitating diabetes in a CHI patient with known genetic mu...

hrp0092p2-143 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Two Siblings with Tyrosinaemia Type 1 and Transient Hyperinsulinaemic Hypoglycaemia

Sotiridou Ellada , Aftab Sommayya , Dastamani Antonia , Doodson Louise , Batzios Spyros , Shah Pratik

Introduction: Tyrosinaemia type 1 (TT1) is a rare autosomal recessively inherited disorder of tyrosine metabolism leading to accumulation of tyrosine and its metabolites in liver, kidney and central nervous system. TT1 is a heterogeneous disorder with a broad spectrum of clinical manifestations. Hypoglycaemia is common, especially in the acute phase of the disease due to liver failure and reduced hepatic clearance of insulin. However, confirmed cases of hyperi...

hrp0089fc10.5 | Late Breaking | ESPE2018

A 5-Year Single-Centre Experience on the Safety and Efficacy of Sirolimus Therapy used for the Treatment of Congenital Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Dastamani Antonia , Ashworth Michael , Morgan Kate , Ellard Sian , Flanagan Sarah , Dattani Mehul , Shah Pratik

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...

hrp0089p2-p105 | Diabetes &amp; Insulin P2 | ESPE2018

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children

Dastamani Antonia , Malhotra Neha , Guemes Maria , Morgan Kate , Rees Clare , Dattani Mehul , Shah Pratik

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 ...

hrp0089p3-p287 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Invasive Macroprolactinoma with Cabergoline Induced Cerebrospinal Fluid Rhinorrhoea in Childhood

Dastamani Antonia , Ederies Ashraf , Aquilina Kristian , Dorward Neil , Korbonits Marta , Spoudeas Helen

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...

hrp0092p1-205 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Central Hypoventilation Syndrome and Hyperinsulinameic Hypoglycaemia

Dastamani Antonia , Yau Daphne , Gilbert Clare , Morgan Kate , Banerjee Indie , Shah Pratik

Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction and both hyperglycaemia as well as hyperinsulinaemic hypoglycaemia (HH) have been reported. Although the mechanism is unclear, autonomic dysfunction may underlie this dysregulation of glucose homeos...

hrp0092p3-266 | Late Breaking Abstracts | ESPE2019

A Novel Mutation of INSR Gene in a Child with Type A Insulin Resistance

Verdecchia Federica , Akcan Nese , Dastamani Antonia , Morgan Kate , Semple Robert , Shah Pratik

Background:Mutations of insulin receptor gene (INSR) lead to a wide spectrum of inherited insulin resistance syndromes. Type A insulin resistance is one of the these syndromes which is inherited autosomal dominant and leads to mild clinical symptoms after puberty.Objective and Hypothesis: To report a novel mutation of INSR gene mutation in a case of Type A insulin resistance who presented with transient neonatal diabetes...

hrp0089p1-p195 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Long Term Reversibility of Presumed ACTH Deficiency (ACTHd) in Children and Young People (CYP) with Intracranial Germ Cell Tumours (IGCT)

Pieri Kyriaki , Michaelidou Maria , Chatoo Zaynab , Holloway Ross , Dastamani Antonia , Spoudeas Helen A

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...