ESPE Abstracts

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

Background: Neonatal vitamin D deficiency (VDD) can result in symptomatic hypocalcemia, seizures and cardiomyopathy and has been associated with reduced bone mineralization in childhood, but is potentially preventable with antenatal cholecalciferol supplementation. Single nucleotide polymorphisms (SNP) in the vitamin D metabolism pathway are associated with serum 25-hydroxyvitamin D [25(OH)D] in adulthood. We assessed whether maternal and/or offspring SNPs in ...

Background: Craniopharyngioma is a rare, suprasellar tumour, which, together with associated surgery or radiotherapy, results in damage to the hypothalamus and severe obesity in approximately 50% of cases. The multi-factorial mechanisms underlying the development of obesity in craniopharyngioma are not well understood. Hypothalamic damage in craniopharyngioma has been associated with dysfunctional parasympathetic nervous system activity leading to altered gluc...

Introduction: The joint young adult diabetes (YAD) service at a specialist UK centre facilitates transition from paediatric to adult diabetes care for young people (YP) aged 16-25 years. Since 2018, quality improvement interventions have included focus groups with young people, joint paediatric and adult specialist nurse appointments and recruitment of a type 1 diabetes educator. We assess the impact of these interventions and changes imposed by the Covid-19 p...

Background & Objective: Indigenous children in Canada have higher rates of obesity and type 2 diabetes mellitus (T2DM) and diabetes-related complications when compared to non-Indigenous children. Indigenous knowledge-based view of health encompasses a holistic approach with physical, mental, emotional, and spiritual health dimensions. This view of health will likely impact their engagement in interventions targeting obesity and T2DM. This systematic review...

Background: In later life, osteoporosis and poor cognitive function often co-exist. This has commonly been attributed to post-menopausal estrogen loss, but there is increasing recognition of cross-talk between the brain and bone. For example, in animal models, bone derived osteocalcin has positive associations with brain volume and cognitive function whilst brain-derived neurotransmitters appear to influence bone mass. Despite this, a common early life origin ...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification (HO) following flare-ups. The median age at diagnosis is 5 years, and patients are managed by multiple specialties. No study to date has provided a longitudinal evaluation of FOP. Final data are presented for participants, aged <25 years, enrolled in the first 36-month, prospective, global natural history study of FOP (NCT02322255).</...

Background: Heat generation in UCP-1 active cells as present in brown adipose tissue contributes to the regulation of energy homeostasis. Brown adipose tissue is known to be present in neonates and infants and has recently also been demonstrated in children and adults. Interestingly, a transition of white adipocytes into a brown phenotype has been documented in vitro in mouse and human cells, yet the underlying mechanisms are still not resolved. Using transcriptome an...

Background: 5α-reductase type 2 deficiency (SRD5A2) is a rare cause of 46,XY DSD. Consensus guidelines on sex of rearing assignment at birth favours male gender. Typically undervirilised genitalia at birth virilise variably at puberty, posing gender identity challenges.Aim: We describe relevant data on clinical phenotype, hormonal and molecular workup and gender preference in patients with SRD5A2 deficiency from a ...

Background: Diazoxide and octreotide are first and second-line of treatment for HH respectively. Long-acting somatostatin analogue (Lanreotide, LA) has been used in adults with neuroendocrine conditions through its effect on somatostatin receptors 2 (SSTR2) and 5 (SSTR5).Objective and hypotheses: (i) To evaluate the efficacy, safety and pharmacokinetics of LA therapy in children with HH. (ii) To determine somatostatin receptor expression on pancreatic al...