ESPE Abstracts

Introduction: Congenital Hyperinsulism (CHI) is a common cause of recurrent and persistent hypoglycemia in the neonatal period. Diazoxide is the first line medication used for the management of CHI. We report the clinical profile and the management outcome of a large cohort of patients with diazoxide responsive CHI.Methodology: A retrospective data collection including antenatal, perinatal and postnatal clinical parameters, laboratory di...

Background: Ovotesticular disorders of sexual development (DSD) are a rare form of DSD with co-existence of both ovarian and testicular tissue in one or both gonads.Case report: A term infant (weight +1.38 SDS) presented at birth with severe penoscrotal hypospadias, a small phallus and a right hemiscrotum with descended gonad (external masculinization score 1.5). Pelvic ultrasound revealed no Mullerian structures, a small right gonad with probable epidid...

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...

Rationale: Although many adolescents meet the NICE criteria for bariatric surgery in the UK, there is a reluctance to undertake or commission irreversible procedures in young people. Balloons are temporary, reversible, safer and in adults have been shown to promote a clinically significant change in BMI of between 4.0 and 9.0 kg/m2. However due to subsequent weight regain, bypass surgery is preferred in adults. In adolescents, more amenable to change, balloons may p...

Background: The adrenal cortex undergoes constant cellular renewal and any effect from recombinant adeno-associated vectors (rAAV) targeting differentiated cells will be transient as extra-chromosomal DNA will be lost by dividing cells. A novel option is to use rAAV to express ectopic adrenocortical enzymes in a stable organ outside the adrenal gland. Our aim was to correct the biochemical phenotype in a mouse model for congenital adrenal hyperplasia (CAH) wit...

Background: The effect of profound weight loss following obesity surgery on skeletal microarchitecture and strength in adolescents has not been studied. Obese children are at an increased risk of fracture and childhood obesity leads to reconfiguration of trabecular bone without augmenting bone strength.Objective and hypotheses: To examine the impact of weight loss following 6 months treatment with an intragastric balloon supported by a lifestyle interven...

Background: A reduction in bone mass in adults and adolescents has been observed following Roux-en-Y bypass surgery with an increase in fracture risk reported in adults. However, the intragastric balloon (IGB) is a less invasive bariatric procedure.Objective and hypotheses: Given obese adolescents are at greater risk of fracture we studied the impact of a 6 month IGB insertion on skeletal mass, geometry and strength over 2 years.Me...

For the safe delivery of Paediatric Diabetes services at DBTH during the COVID pandemic a postal HbA1c service with patients collecting capillary blood samples to send to the laboratory for analysis was proposed. The aim of this pilot study was to assess stability of HbA1c at ambient temperature in capillary whole blood samples collected into Sarstedt Microvette EDTA tubes. Samples were analysed on the day of collection on the TOSOH G11 analyser and then re-assayed daily for u...

Background: With improved survival of childhood allogeneic hematopoietic stem cell transplant (HSCT), there is increasing need for surveillance, including assessment of endocrine late effects in this cohort1,2.Aim: To evaluate endocrine late effects after chemotherapy and radiation in survivors of childhood allogeneic HSCT.Methods: Multi-site evaluation via medical recor...

Background: With improved treatment and survival of childhood hematological malignancies, the issue of fertility in survivors has become an important domain of holistic care. Haemopoietic stem cell transplant (HSCT) survivors were reported to have reduced fertility as compared to siblings, with 4/170 adult female allogeneic HSCT survivors achieving successful pregnancy.1 Of 532 female survivors, median age of 17.8 years at HSCT, who had TBI conditioning, 13 pregnanc...