ESPE Abstracts

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: Nicotinamide nucleotide transhydrogenase (NNT) gene mutations have been recently shown to cause familial glucocorticoid deficiency (FGD), by decreasing reactive oxygen species (ROS) detoxification in adrenocortical cells. Affected infants present within the first few months with isolated glucocorticoid deficiency.Objective and Hypotheses: To study the genetic etiology of four cases presenting uniquely with neonatal addisonian crisis (both min...

Background: Referrals to pediatric endocrine clinics for short stature are common. Height velocity (HV) is an essential component of the evaluation of short stature as growth deceleration often reflects an underlying pediatric endocrine diagnosis (PED). Access to previous measurements facilitates prompt calculation of HV.Objective and hypotheses: To determine availability of previous measurements at time of referral for short stature, to characterize PED...

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...

Introduction: Premature pubarche is the most frequent diagnosis when children present moderate pubic hair development, but other diagnosis must be ruled out. We report the case of a child with premature pubarche with hormonal results in the physiological range, corresponding to an adrenal tumor.Observation: A girl aged 6.8 years consulted for precocious pubertal development (pubic hair stage 3, breast stage 2), with moderate acne. There was no virilizati...

We present a 3-year-old boy with massive obesity and hyperphagia. His appetite symptoms were evident from age 3 months, and his parents report he has an insatiable appetite, and seeks food constantly. At presentation to our clinic, his BMI was 37.21 Kg/m² [+ 6.87 SDS]. Sleep apnoea is suspected, for which he is undergoing evaluation. Parents are second cousins. Both parents are moderately obese, but his siblings are normal weight for age. The mother did not have a history...

Paraneoplastic Cushing syndrome is extremely rare. To date, there are few reported cases related to Wilms' tumor. We describe a patient who presented with Cushing syndrome and was subsequently found to have Wilms' tumor. Our patient is a 9 year-old boy, who presented with hyperphagia and excessive weight gain for 3 months. His abdomen was also progressively bigger. There was no ingestion of steroids or traditional medication. Subsequently he sought medical advice becau...

Background: Adequate sick day management at home may reduce the risk of progression to diabetic ketoacidosis (DKA) and admission to hospital. The UK does not have a consensus guideline for sick day management advice to children and young people with type 1 diabetes mellitus (T1DM). Children’s diabetes services vary in their practice of education and advice in the use of urine or blood ketone monitoring during illness.Objective and hypotheses: The ai...

Background: The BoneXpert method for automated determination of bone age from hand X-rays has always included a determination of the Bone Health Index (BHI) from the cortical thicknesses in the metacarpals.Objective and hypotheses: The aim was to extend this so-called digital X-ray radiogrammetry method into adults, and present reference curves for BHI and three other indices: the metacarpal index, the Exton-Smith index and the volume-per-area (proportio...

Background: The BoneXpert method for automated determination of bone age (BA) from hand X-rays was introduced in 2009, covering the Greulich-Pyle BA range up to 17 years for boys and 15 years for girls.Objective and hypotheses: To present an extension of the BA range of the automated method up to 19 years for boys and 18 years for girls and to validate it against manual rating.Method: The extension was developed based on images fro...