ESPE Abstracts

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy in children, presenting diagnostic and therapeutic challenges. This case report details the presentation, workup, and initial management of a highly aggressive ACC in a young infant.Case Presentation: A 12-month-old boy presented with premature pubarche. Parents also noticed rapid weight gain, increased body hair growth, and penile enlargement. Clinical pi...

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

Background: The ultimate goal in the management of congenital adrenal hyperplasia (CAH) in children is to achieve normal growth and development which can be a challenge. The consensus guidance recommends hydrocortisone (10–20 mg/m2 per day) and fludrocortisone(50–200 μg/day) therapy titrated carefully with regular monitoring.Objective and hypotheses: To determine the current practise in UK regarding the management of CAH in chil...

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...

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...

Introduction: Subcutaneous fat necrosis (SCFN) is an uncommon inflammatory disorder of the adipose tissue. Though hypercalcaemia secondary to SCFN is a well-recognised entity, reported cases with persistence of symptoms requiring prolonged treatment as in our case are rare. There are also limited reports about the severity and duration of hypercalcaemia secondary to SCFN with possible correlation of the severity to the extensity of the skin lesions. We present a neonate who de...

Background: Isolated prepubertal menarche is described in the absence of any other signs of precocious sexual development. This condition remains unclear in its aetiology and there is currently no consensus on investigations to be undertaken.Objective and hypotheses: The objective of our study is to evaluate the following factors associated with persistent isolated cyclical vaginal bleeding: clinical presentation, gonadotrophin-releasing hormone (GnRH) s...

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: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, with an incidence of 1:3000 neonates, and one of the most frequent preventable causes of mental retardation worldwide. Most (65%) cases of primary permanent CH are due to thyroid dysgenesis (TD). However, a genetic cause is identified in less than 5% of CH due to DT.Methods: We performed WES (Whole Exome Sequencing) for siblings with childhood-onset TD and we analy...

Background: Bone growth and mineralization during childhood are now recognized as important for bone health in adulthood, leading to renewed interest in identifying modifiable factors that impact bone mineral density (BMD) in childhood. Emerging data suggest that duration of breastfeeding may affect BMD in later childhood and adult life. However, such data are sparse and inconsistent.Objectives: This study examined the relationship betwe...