ESPE Abstracts

Background: Vitamin D dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-Hydroxyvitamin-D3 1-α-hydroxylase gene(CYP27B1).Objective and hypotheses: To evaluate clinical characteristics and molecular genetic analysis of the pediatric patients with VDDR1 who were being followed at Diyarbakir Children’s State Hospital, Turkey.Method: VDDR1 diagnosis was consid...

Background: Hypothalamic hamartomas(HH)-rare heterotopic congenital malformations (incidence 1:200 000)-present with central precocious puberty (CPP) or gelastic seizures (GS) but their natural history and best treatment strategy are unknown. Given their proximity to the hypothalamus–pituitary axis, wider endocrine dysfunction may be expected.Objective and hypotheses: To describe clinical features and any evolving endocrinopathies in HH patients, by...

Background: Paediatric diabetes has been the focus of attention during the COVID-19 pandemic. There are reports of increased incidence of new-onset type 1 paediatric diabetes and concerns about delayed presentations to the Emergency Department (ED) due to parental fears of SARS-CoV-2, resulting in an increase in the incidence and severity of DKA in children with new-onset diabetes.Objectives: To characterise the features...

Introduction: PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2] is a unique clinical complication of COVID -19 infection in paediatric patients. We report a case of a child presenting with PIMS-TS and new onset type 2 diabetes.Presentation: A previously healthy 15 year old boy of Bengali-Indian origin presented to the hospital with polyuria, polydipsia, dry cough, abdominal pain and 1 episode of...

The proband is a 12 yr old Caucasian European girl with grade 3 obesity, developmental delay and hyperphagia. She was born at term via an uncomplicated pregnancy and exhibited neonatal hypotonia, difficulty feeding, failure to thrive and delayed attenuation of milestones. At the age of 2 years she started developing hyperphagia and rapid excessive weight gain. Molecular analysis for Prader Willi syndrome and array CGH were negative. At the age of 10 yrs she was diagnosed with ...

Background: Kenny–Caffey syndrome 2 (KCS 2) is a rare cause of hypoparathyroidism, characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular long bones, delayed closure of anterior fontanel and eye abnormalities.Objective: We report the case of a 4-years’-old boy, who presented with the characteristic, and newly identified clinical, biochemical, radiological and genet...

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We explored the effects of this treatment in a clinical setting, considering biochemistry, growth, deformity, functionality, quality of life, pain and fatigue.Methods: Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and 12 months in a cohort of 8 children...

Aim: Western Australia is a state with unique geography and population distribution having only a single tertiary paediatric hospital (Princess Margaret Hospital, PMH in Perth) managing the majority of children and adolescents with fractures in the Emergency Department (ED). Fracture incidence in 0–16 year olds is known to be high and varies between countries with boys having a 1.5 fold higher fracture incidence than girls. There are no specific data for Australia. The ai...

Background: The adequacy of cortisol response in NCCAH has not been fully elucidated.Objective and hypotheses: To evaluate cortisol response to ACTH stimulation test in children and adolescents with NCCAH and possible heterozygosity for CYP21 gene molecular defects.Method: Data of ACTH stimulation test from 146 children and adolescents with clinical hyperandogenism were evaluated retrospectively. Cortisol responses to ACTH stimulat...

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...