ESPE Abstracts

Background: Idiopathic ketotic hypoglycaemia (IKH) is an exclusion diagnosis and the most common cause of hypoglycaemia in childhood. Glycogen Storage disease (GSD) type IX comprises one quarter of all GSD’s. GSDIXa, encoded by PHKA2, is the most frequent subtype.Objective: To investigate whether IKH may be undiagnosed GSDIXa.Methods: Hospital file review and next generation sequence 29 gene GSD-panel.<p class="ab...

Background: Kawasaki disease (KD) is an acute inflammatory disorder, associated with systemic vasculitis including coronary artery aneurysms (CAA). Treatment with intravenous immunoglobulin (IVIG) can resolve inflammation. However, about 20% patients show resistant to IVIG treatment and some of the cases required additional treatments. Recently, IVIG plus adjuvant glucocorticoid hormones (GC) has been shown to be an effective therapy for these patients, su...

Case Description: We report a case of a 7-month old Vietnamese boy who presented with failure to thrive and a Cushingoid appearance from 1 month old. There was no history of exogenous steroid use. On examination, height and weight were <3rd centile. He was Cushingoid with motor development delay. There were multiple large café-au-lait lesions over the sacral region but no limb asymmetry to suggest fibrous dysplasia.En...

Background: Hyperuricaemia has been associated with increased risk of metabolic syndrome in adults and children. Elevation in serum uric acid (SUA) is hypothesized to be a critical initiator of the development of essential hypertension. The exact relationship between SUA and blood pressure (BP) has not been established in the pediatric population. We conducted a systematic review to evaluate the association between SUA and BP in well, obese/overweight and hype...

Celiac Disease is being increasingly recognised among Asians, but the spectrum of presentation may differ from that of Caucasian populations. The clinical phenotypes of celiac disease and diseases of gluten intolerance have not been well studied in Singaporean patients. We describe the clinical, biochemical and genetic phenotype of each seropositive individuals from a single private sector paediatric endocrinology clinic in Singapore over the period 2008 to 2020. These 67 pati...

Background: Diazoxide therapy is used as first line treatment in hyperinsulinaemic hypoglycaemia (HH). Apart from a single study reporting efficacy of low dose diazoxide in small for gestational age (SGA) infants, diazoxide has been reported to be used in doses of 5-20 mg/kg/day [1].Objective: To report the outcomes of infants with HH responsive to low dose diazoxide (≤5mg/kg/day).Method...

Background: Diabetic ketoacidosis (DKA) is a severe and often the inaugural clinical manifestation of type 1 Diabetes (T1D). Diabetic nephropathy is one of the most devastating chronic complications of T1D and its’ early diagnosis is traditionally based on microalbuminuria.Objective and hypotheses: The aim was to investigate the possible associations between the initial clinical manifestations and the chronic complications of T1D.<p class="abste...

Objective: Urine phthalic acid esters (PAEs) are one of estrogen-mimetic EDCs. Many studies have suggested that urinary phthalic acid esters (PAEs) are closely related to central precocious puberty (CPP) and isolated premature thelarche (IPT), but there is no study between urinary PAEs and the progression of IPT. This study is to explore the influence of PAEs on the progression of IPT to CPP or early puberty (EP).Methods:</strong...

Background: GL1I2 encodes a zinc-finger transcription factor expressed in the developing hypothalamus and in Rathke's pouch, the embryonic precursor of the pituitary gland. Pathogenic GL1I2 variants have been implicated in the etiology of the broad clinical spectrum of congenital hypopituitarism (CHY): holoprosencephaly, midline facial abnormalities, Culler-Jones syndrome, combined pituitary hormone-deficiency (CPHD) and isolated GH-defi...

Background: Central diabetes insipidus (CDI) is characterised by a central deficiency of arginine vasopressin (AVP) with polyuria and polydipsia. The etiology is heterogeneous. The treatment of choice is the oral or nasal application of DDAVP (synthetic analogue of AVP). CDI in the context of coronavirus disease 2019 (COVID19) has been reported in an individual case.Case report: We present a 9-year old male with CDI of u...