ESPE Abstracts

Background: Giant cell granulomas (GCG) are uncommon bony lesions that most commonly affect the maxilla and mandible; whilst generally benign they can be disfiguring to the face. Historically, GCGs have been treated with steroids or bisphosphonates to try and avoid surgical resection. Over recent years denosumab, a human monoclonal antibody which acts against the receptor activator of nuclear factor kappa B ligand, has been shown to be effective in treating GC...

Increasing numbers of infants are being born very preterm. These infants require intensive care and have a high risk of mortality and morbidity which has been associated with both hyperglycaemia and hypoglycaemia. In utero, glucose levels are normally maintained between 4–6 mmol/l, but infants born preterm are exposed to significant periods of both hyperglycaemia and hypoglycaemia. Early postnatal glucose control may be an important modifiable risk factor for clinical out...

Introduction: Neonatal ambiguous genitalia can herald sensitive, time-critical, and life-threatening diagnoses and thus paediatric doctors must be competent in their management. However, ambiguous genitalia are rare, limiting clinical exposure. We assessed paediatric doctors’ experience of, knowledge of, and confidence in managing this condition.Methods: A questionnaire was circulated to paediatric doctors at two tertiary and four secondary level pa...

Background: The effects of metabolic memory highlight the importance of good glycaemic control following diagnosis of type 1 diabetes (T1D). There is relative insulin resistance at diagnosis, particularly in the presence of ketonaemia. Local prescribing guidelines reflect this with higher insulin starting doses with ketonaemia.Objective and hypotheses: Current insulin dosing guidance for children with newly diagnosed T1D appeared insufficient to achieve ...

Background: Research on the impacts of achondroplasia on children's functioning and well-being is limited. The purpose of the study was to investigate the impacts of achondroplasia on children's daily lives to support the development of an impact measure of achondroplasia on children's functioning and well-being.Methods: Individual telephone interviews and one parent focus group were conducted in the United S...

Aims: To examine growth, body composition and glucose metabolism during childhood in children born small for gestational age (SGA).Methods: Single centre cohort study of 150 children (63 boys), identified from newborn records as being born SGA (birth weight SDS <−1.5) and assessed between the age of 4 and 7 years. Data collected included: anthropometric parameters (height, weight, BMI: transformed into age- and sex-adjusted SDS), lean and fat m...

Background: Polycystic ovarian syndrome (PCOS) is the most common cause of oligomenorrhea and hyperandrogenism. Diagnostic criteria for PCOS includes ovarian dysfunction and clinical or biochemical evidence of hyperandrogenism. The differential diagnosis includes congenital adrenal hyperplasia as well as steroid producing tumors.Case presentation: 18-years-old female presented to establish care with a history of PCOS diagnosed at the age of 11 years. She...

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...

Background: Individuals with congenital adrenal hyperplasia (CAH), a form of adrenal insufficiency, are exposed to daily non-physiologic, non-circadian cortisol profiles due to both the disease and therapeutic limitations. Dysfunction in the hypothalamic-pituitary-adrenal axis is strongly associated with depressive disorders. However, little is known about the prevalence of depression among children and young adults with CAH. We investigated the prevalence of ...

Introduction: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000 – 160,000, caused by mutations across >20 known genes encoding for proteins responsible for the integrity of the primary cilium/basal body complex. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been r...