ESPE Abstracts

Background: Hypospadias surgery is usually performed during infancy at which time parents act as proxy decision makers. Parental decisional regret, a common phenomenon after hypospadias surgery, may be affected by the process of informed consent where decision making between parents and healthcare provider is shared based on available evidence and individual concerns.Objective: To identify short- and long-term parental c...

Background: Transgender adolescents may be treated with gender affirming hormone therapy (GAHT) consisting of gonadotropin-releasing hormone agonists (GnRHa) and cross-sex hormones. Limited data are available regarding the metabolic effects of GAHT in adolescence.Objective: To evaluate the lipid profiles and HbA1c in transgender adolescents after one year of cross-hormone treatment.Patients...

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy(APECED) is a rare autoimmune disease caused by a loss-of-function mutation in the autoimmune regulator gene(AIRE). AIRE gene mutation disrupts the negative selection of self-reactive T cells in the thymus, causing autoimmune reactions in endocrine and non-endocrine tissues. Impairment in T cell function is also associated with susceptibility to specific infections along with autoimmun...

Background: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...

Background: In selected cohorts, a genetic cause is found in up to 40% of children presenting with severe short stature (height <-3 SDS) and 30% with multiple pituitary hormone deficiency (MPHD). Since 2020, to inform diagnosis and tailor management, three NHS England genomic laboratory hubs (GLHs) have offered clinicians access to gene panels as part of routine care for short stature: R147 ‘Growth failure in early childhood’ (e...

Introduction: Pathogenic MC4R gene variants result in hyperphagia and early onset obesity, but puberty is not usually affected. A 16-year-old male with repaired Tetralogy of Fallot, anosmia, autism, and anxiety, was referred with delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had high-arched palate, normal skin and hair colour, mild hypertelorism, Tanner stage A2P1G1, 5ml testes.Results: Gn...

Background: P450 oxidoreductase (POR) is a co-factor critical for the function of type 2 microsomal cytochrome P450 enzymes. POR deficiency (PORD) results in a rare form of congenital adrenal hyperplasia, with combined attenuation of CYP21A2 and CYP17A1 steroidogenic enzymes. It is characterised by combined deficiencies of glucocorticoids and androgens postnatally. Differences in sex development can arise in both sexes due to antenatal activation of the altern...

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We previously reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we report final data from this Phase 2 Study CL201 (NCT02163577).Fifty-two children with XLH (5-12 years old, Tanner ≤ 2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) we...

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we present data on 11/52 subjects (all girls) who developed fused growth plates during the phase 2 study CL201 (NCT02163577).In CL201, 52 subjects (Baseline: 5-12 years-old, Tanner ≤ 2) were randomized 1:1 to recei...