ESPE Abstracts

Background: Transient hyperinsulinemic hypoglycaemia (THH) is associated with risk factors such as prematurity, maternal diabetes mellitus, perinatal hypoxia, small for gestational age (SGA) and syndromes like Beckwith Wiedemann syndrome (BWS).Objective: To present the features of a large cohort of patients with THH managed at a Quaternary referral centre.Method: Patients who had neonatal onset HH that resolved before the 2nd birth...

Introduction: Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that could be associated with embryonal tumours. Genotype based categorisation of patients enables better screening strategies. We present a patient with BWS who developed atypical congenital hepatoblastoma and atypical Wilms tumour in infancy.Case Report: A 2 day old infant was referred with recurrent hypoglycaemia and high intravenous glucose requirement [>12 mg/kg/min]. He ...

Background: Constitutional delay in growth and puberty (CDGP), the most common cause of short stature in children, is a transient state of delayed growth, skeletal maturation and attenuated pubertal growth spurt. It is not always easy to differentiate from GH deficiency (GHD) even with robust clinical and auxological assessment, measurement of IGF1 and bone age evaluation Bone health index (BHI) is a quantitative measure of bone health calculated from a hand and wrist X-ray us...

Background: Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disorder caused by NF1 mutation. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. We present two siblings diagnosed with NF1 who presented at an early age with isolated menarche.Case Presentation: Sibling 1 – A 7-year-old patient w...

Introduction: Post-operative management of fluid and electrolyte imbalance after surgery for pituitary or suprasellar tumors could be challenging. Post-operative course could include diabetes insipidus (DI) (transient or permanent) or a classical triphasic response (initial phase of DI followed by a second phase of transient SIADH and third and final phase of permanent DI). Mainstay of management of SIADH in these patients involves fluid restriction. At times,...

Introduction: Beckwith-Wiedemann syndrome (BWS) is a multisystem imprinting disorder. Approximately 50% of patients with BWS develop congenital hyperinsulinism (CHI). In this report, we describe the main clinical features in a group of patients with BWS and CHI.Study: Clinical and laboratory data was collected from all patients with BWS under the care of endocrine units at Alder Hey Children’s Hospital (Liverpool, UK) and Endocrine Research Centre (...

Background: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant condition characterized by osteoporosis, acro-osteolysis, short stature and specific craniofacial features and is caused by mutations in the NOTCH2 gene which codes for a single-pass transmembrane protein that plays a critical role in skeletal development and bone remodelling. Syringomyelia has been reported in 5 of 75 reported cases of HCS worldwide. The mechanism for t...

Background: Trisomy 21 is associated with dysregulated pituitary thyroid axis with higher TSH and lower FT4 than controls. This may be due to genomic imbalance from trisomy of chromosome 21. Transient congenital hypothyroidism (CH) in newborns is recognised in association with maternal thyroperoxidase (TPO) antibody positivity. ‘Thyroid hormone resistance’ in infancy in CH is also been described.Objective and hypotheses: We report an...

Background: There are published recommendations for neonates to avoid exposure to iodine. Iodine is trapped by the thyroid gland from the blood stream and used for the synthesis of thyroid hormones. Any excess is excreted almost entirely in the urine. Acute kidney injury, especially anuria places infants at risk of toxicity when exposed to iodine and paradoxical hypothyroidism can occur (Wolff–Chaikoff effect). Hypothyroidism of sufficient severity to seriously put the br...

Background: Lanreotide is a long acting somatostatin analogue that has been used successfully in the treatment of congenital hyperinsulinism (CHI) in patients who are unresponsive or intolerant to diazoxide. Antidepressant drugs are reported to cause alterations in blood glucose homeostasis in adults with diabetes mellitus. We report a patient with persistent CHI on Lanreotide therapy, who developed recurrent hypoglycaemia following Fluoxetine therapy.Ca...