ESPE Abstracts

Human imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of gene dosage at imprinted loci across the genome. Causes of disease include point mutations, structural variants, uniparental disomy and ‘epimutations’ with a parent of origin specific effect. Further complexity underlies the causes of the epigenomic errors that may be the result of genetic and environmental factors at different times during the de...

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

Background: Children with SCA are six times likely to be vitamin D deficient. The prevalence of VDD in SCA is 65–100% (USA, Jeddah, Spain, England). Reasons for these include: recurrent illness, hospitalization, Increase resting energy expenditure, poor appetite, inadequate food intake, increased energy & micronutrient needs and probably excessive body covering. VDD in SCA is associated with increasing co morbidities. However, there are no studies from Nigeria the cou...

Background: The HPAT multi-disciplinary meeting (MDT) was set up in 2011 with the aim to improve collaboration with other hospitals treating children with rare paediatric suprasellar brain tumours. It is a monthly remote meeting conducted virtually.Objective: To evaluate the impact of COVID19 pandemic by comparing the number of meetings, cases (news/previously discussed), diagnosis, attendees, specialties, centres and ou...

Objective: Postprandial hyperinsulinaemic hypoglycaemia (PPHH) or “late dumping syndrome” is a well-recognised complication following gastrointestinal surgery and has been less commonly identified idiopathically in paediatric patients. This study describes and compares the characteristics, diagnosis, management and outcomes of paediatric idiopathic and surgical PPHH.Design: Retrospective chart review of child...

Background: Treatment of growth hormone deficiency (GHD) requires daily injections over multiple years. Novel technologies facilitate this by automating the injection process – thereby adding comfort and reducing anxiety. An always-connected device, enabled by mobile technologies, also facilitates the collection of injection data such that adherence information is available to healthcare professionals (HCPs) in real-time. In developing new solutions, it ...

Introduction: Boys born small for gestational age (SGA) often have undermasculinized genitalia. Little is known about the pubertal development and gonadal function on a longer-term in this specific group of males.Aims: To determine the (pubertal) development and long-term urological and endocrine outcome of undermasculinized boys born SGA compared to undervirilized boys born appropriate for gestational age (AGA).<p c...

Introduction: Denosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand that strongly suppresses differentiation and function of osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the mandible and the maxilla. In patients with cherubism, the bone is replaced by a fibrous granuloma containing multinucleated giant cells, which are differentiated into activated osteoclasts<p class="abst...

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...