ESPE Abstracts

Case: A South Indian boy diagnosed with ataxic telangectaisa(AT) since aged 5 years (homozygous mutations for ATM gene at C1966A>C and 1968-X.delI), presented with type 2 diabetes (T2DM) aged 15.9 years. There was a 4-week history of polyuria and polydipsia without weight loss. Investigations showed fasting glucose 11.5 mmol/l, insulin 209 pmol/l, HbA1c 103 mmol/mol, negative glutamic acid decarboxylase and islet cell antibodies, and urinary C-peptide 2.84 nmol/mo...

Background: Weight loss interventions for obesity have shown variable short-term effects in adolescents and children, but data on longer-term benefits are sparse.Aim: To describe longer-term impact of lifestyle weight loss interventions in adolescent obesity.Method: Obese subjects previously underwent lifestyle weight loss interventions at a hospital-based clinic were invited to participate in metabolic re-assessment. Outcome measu...

Background: Prader–Willi syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11–q13 region and characterized by hypotonia, a poor suck, hypogonadism, GH deficiency(GHD), learning and behavioural problems. GH acts as a ligand for the GH receptor (GHR) coded by a gene polymorphism for an exon-s deletion (d3) seen in about 50% of Caucasians and associated with an increased response to GH (GH) therapy.<p class="abstext"...

Background: The optimal timing and appropriate first-line investigations for delayed menarche in an otherwise well teenager with fully developed secondary sexual characteristics is debatable.Case presentation: A 15 year-old female presented with parental concerns of cliteromegaly. Facial acne and primary amenorrhoea were also noted. Pubic hair development started at age 10 years and breast development age 12 years. Family history revealed delayed menarch...

Background: Germline mutations in fibroblast growth factor receptor (FGFR) genes 1–3 can cause skeletal dysplasias such as achondroplasia (ACH), which is caused primarily by a G380R substitution in FGFR3. Infigratinib (BGJ398), a potent and selective FGFR1–3 tyrosine kinase inhibitor (TKI), demonstrated preclinical efficacy at low doses in an ACH mouse model. The objective of this analysis is to evaluate dose dependency and toxicity...

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...

Background: Previous studies have speculated that melatonin secreted by the pineal gland plays a role in the regulation of puberty, and pineal cyst may affect its secretory function, thus causing early pubertal development. However, there are few studies on early pubertal development with pineal cyst and its clinical features are not clear. This study aims to explore its clinical features and the relationship with cyst size to further improve the understanding...

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder associated with hyperphagia, and excessive weight gain. Patients with PWS are at elevated risk of developing morbid obesity and associated life-threatening complications. Although gut microbiota has been suggested to play a role in disease phenotypes, little is known about its composition and how it relates to hyperphagia.Objective: The aim of this ...

Key words: precocious puberty; idiopathic central precocious puberty; premature thelarche; gut microbiota; HPG axisBackground: The incidence of precocious puberty and obesity has increased significantly after the COVID-19 epidemic, and the specific cause is not clear. There seems to be a causal relationship between obesity and idiopathic central precocious puberty. A few studies have shown that the changes of gut microbi...

Background: Central precocious puberty (CPP) results from the premature pubertal activation of the hypothalamic-pituitary-gonadal axis before eight years for girls or nine years for boys. A systematic review and meta-analysis was conducted to evaluate the long-term efficacy and safety of leuprolide acetate (LA) 11.25mg 3-month formulation in children with CPP.Methods: A systematic search in PubMed and Embase was conducte...