ESPE Abstracts

Children with sickle cell disease (SCD) often suffer from back pain and present with vertebral changes, but the use of bisphosphonates is poorly reported. We present our experience on treating six children with SCD with Zoledronate in a tertiary paediatric endocrinology and haematology centre.Population: Six children with SCD were treated with zoledronate infusions between the years 2016-2021. All children had a history of significant mi...

Background: Chemerin, a protein mainly synthesized in the adipose tissue and liver, belongs to the adipokines family and is implicated in signaling for adipocyte differentiation and lipolysis. From this point of view, chemerin can exert an important role in the regulation of various pathophysiological functions, including lipogenesis and metabolism.Objective: The aim of this study was to investigate the relationship betw...

South Asian (SA), British-born adults have increased cardiovascular (CV) risk factors compared to White Europeans (WE). Early detection of CV risk may allow intervention. The Manchester HAPO (Hyperglycaemia and Adverse Pregnancy Outcomes) cohort showed babies of SA origin were born significantly shorter, lighter and had a lower mean BMI SDS than those of WE origin. We now report ethnic differences in body composition and CV markers in childhood. Measurements on 102 children (5...

Background: In premature adrenarche (PA) children bone age (BA) may be greater than chronological age (CA), however final height is usually within target height (TH).Objective and hypotheses: Aim of the study was to evaluate the evolution of BA in girls with PA.Method: We studied retrospectively the files of 60 girls with PA followed in our unit. Anthropometric data and Tanner pubertal status were determined in each visit and BA wa...

Background: Primary generalized glucocorticoid resistance (PGGR) or Chrousos syndrome is a rare familial or sporadic condition caused by mutations in the hGR gene, which reduce tissue sensitivity to glucocorticoids. A new case of PGGR caused by a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor, was recently reported in a patient with an adre...

Background: Isolated GH deficiency (IGHD) may be due to several different causes. Mutations in the GHRH receptor (GHRHR) gene are a relatively rare cause of IGHD.Objective and hypotheses: To understand the molecular cause of severe short stature in a large highly consanguineous family with IGHD.Method: Affected patients were evaluated for GH secretion and other anterior pituitary function. Anterior pituitary size was measu...

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...