ESPE Abstracts

Background: Transient neonatal diabetes mellitus (TNDM) is a rare genetic β-cell dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Some of these patients suffer from neurodevelopmental defect. Long-term outcome has been poorly investigated.Objective and Hypotheses: To investigate metabolic and neurologic outcomes in adults affected with TNDM.M...

Introduction: Neonatal hypoglycemia (NH) affects about 15% of all neonates and about 50% of neonates born with risk factors, including maternal diabetes, large- or small for gestational age, or prematurity. Although it is known that hypoglycemia in congenital hyperinsulinism can lead to brain injury, it is still not clear to what extent transitional NH is tolerated during the first days of life without brain damage. Thus, treatment thresholds and management st...

The use of recombinant adeno-associated viruses (rAAV) as safe vectors have allowed hundreds of gene therapy attempts to treat monogenic diseases not including bone genetic diseases (Gao G, Nat Rev Drug Dis 2019). To our knowledge, there has been few attempts to apply gene therapy to monogenic bone diseases, largely because most skeletal malformations are being developed during fetal life. Patients affected with acrodysostosis are known to aggravate their skeletal malformation...

Background: Traumatic brain injury (TBI) is common in childhood and can induce pituitary defects. Long-term endocrine consequences are missing.Objective and hypotheses: To determine in a prospective way if pediatric patients with a personal history of TBI developed long term pituitary deficiency independently of the results of the early hormonal investigation.Method: Prospective follow-up of an initial cohort of subjects (0–15...

Background: Traumatic brain injury (TBI) is common in childhood but long-term endocrine consequences are yet to be documented by prospective data.Objective and hypotheses: We have previously demonstrated in prospective study that, 1 year after severe accidental TBI (ATBI) or inflicted TBI (ITBI), children and adolescents may present pituitary and growth hormone (GH) dysfunction. We present here the follow-up of this population to determine whether or not...

Background: Gonadotropin-releasing hormone agonists (GnRHa) are common treatment in adolescents with gender dysphoria to prevent development of unwanted physical changes. However, the safe use of GnRHa is debated in the media and objective literature is sparse. Specifically, there is a lack of literature comparing between different Tanner stadia, since it is debatable whether GnRHa treatment is effective in adolescents who have almost gone through puberty (Tan...

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...

Background: The contribution of intrauterine growth restriction (IUGR) and parental height (PH) to childhood short stature is difficult to determine in countries, including the UK, where birth length (BL) is not routinely measured, while accurate PH may become unavailable due to separation/divorce. A previous study (2008–2009) examined the feasibility of BL and PH measurement in the lightest 9% of babies born in a single maternity unit. Uptake was disappointing, with part...

Aim: Western Australia is a state with unique geography and population distribution having only a single tertiary paediatric hospital (Princess Margaret Hospital, PMH in Perth) managing the majority of children and adolescents with fractures in the Emergency Department (ED). Fracture incidence in 0–16 year olds is known to be high and varies between countries with boys having a 1.5 fold higher fracture incidence than girls. There are no specific data for Australia. The ai...

Objective: To investigate response to growth hormone (GH) treatment for idiopathic GH deficient (GHD) and family short stature (FSS) and Small for Gestational Age (SGA) patients or Combined group.Design: GHD, FSS, SGA and Combined group patients who were currently receiving GH and had completed treatment with treatment duration of more than 6 months (from 8/2019 to 5/2021) at International Vinmec Central Park hospital. M...