ESPE Abstracts

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...

Background, objective, and hypotheses: OPKO Biologics has produced a long-acting human GH (hGH), MOD-4023, containing copies of a naturally-occurring C-terminal peptide (CTP) to markedly increase GH’s in vivo residence. We describe the construction and validation of a pharmacokinetic (PK)/pharmacodynamics (PD) model to characterise the relationship between MOD-4023 dose, MOD-4023 serum concentrations (Cserum), and IGF1 responses in healthy adults, GH-deficient (G...

Background: Patients with type 1 diabetes (T1DM) are at a high risk of having other autoimmunological diseases. The most common coexisting disease is autoimmune thyroiditis, which is diagnosed in 15–30% diabetic patients. The incidence of the disease depends on the age, sex, and duration of T1DM.Aims and objectives: This study aims to assess the prevalence of anti-thyroid peroxidase antibodies and anti-thyroglobulin antibodies in children with newly...

Background: Obesity in adolescence is associated with a 70% likelihood of obesity or overweight in adulthood. Hence, effective intervention programs for childhood obesity in high-risk populations are needed.Objectives: i) To compare the efficacy of two intervention strategies, involving parents only vs parent and child, to a control group, in the treatment of childhood obesity. ii) To identify clinical demographical and biochemical predictors for decreas...

Background: GH secretion is affected by duration and quality of sleep. Studies examining the connection between sleep and linear growth have reported conflicting results. Recently, we reported that nutritional supplementation was effective in promoting growth in children. In the present study, we extended our evaluation of the nutritional supplement to assess the association between nutrition, sleep and growth.Objective and hypotheses: To examine whether...

Background: Poor appetite is common in children with idiopathic short stature (ISS), and is usually improved with GH therapy.Objective and hypotheses: To investigate the effect of GH therapy on appetite regulating hormones following a standard meal test (SMT) and to examine the association between these changes and growth response, body composition and resting energy expenditure (REE).Method: Nine ISS pre-pubertal children underwen...

Background: Congenital hypothyroidism (CH) occurs in 1:3000–1:4000 newborns. The majority of newborns with CH are detected by routine screening programs and treatment is promptly initiated following confirmatory thyroid function testing. Although early imaging studies do not influence the treatment decision or management, they establish the underlying diagnosis and may distinguish between permanent and transient CH.Objective: To assess the role of e...

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...

Objective: Given a large number of false-positive growth hormone deficiency (GHD) diagnoses from a single GH stimulation test in normal children, two different pharmacological tests, performed on separate days or sequentially, are required. This study aims to assess the reliability and safety of a combined clonidine-arginine stimulation test (CACST).Design: Retrospective, single-center, observational study....