ESPE Abstracts

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...

Context: In the newborn period, failure to thrive (FTT) with feeding difficulties and severe hypotonia are prominent in Prader-Willi syndrome (PWS). Despite the low weight, abnormal body composition is already present at birth in both children with FTT and those without. Limited studies reported the prevalence of FTT in infants with PWS and it has not yet been described whether GH-treatment has different effects in infants with FTT compared to those without.</...

Purpose: Turner Syndrome (TS) is a common chromosomal disorder in females, affecting approximately 3% of female conceptions. At present, the diagnosis of TS largely relies on karyotype testing and related technologies. The issuance of such tests depends on the experience of doctors and the analysis of reports takes more than a week, which leads to a high misdiagnosis rate for TS. Therefore, our objective is to facilitate swift and accurate identification of TS...

Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family that regulates gene expression. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. Recently, SEDT5 gene variants have been described in patients with KBG and Cornelia de Lange syndromes. Pathogenic variants of SETD5 gene are primarily associated with intellectual delay ...

Introduction: Mutations in PTPN11 gene accounts for 50-60% of genetically identified patients with Noonan syndrome (NS). This report is of three siblings with familial NS due to mutation in PTPN11. Among the three, two of them have an additional mutation in PLOD1 gene and have normal height. The sibling who is shorter compared to the other two does not have this additional mutation. PLOD1 -related kyphoscoliotic Ehlers-Danlo...

Background: Pubertal induction with incremental doses of oestrogen replacement is an important component of care offered to hypogonadal patients with Turner Syndrome (TS). Low dose oral ethinylestradiol (EE) has been extensively used in the UK but natural 17-β oestradiol (more physiological, cheaper and easily monitored in blood) is becoming increasingly popular. We undertook this updated review, following on from previous work, to compare the efficacy an...

Objective: The aim of this study was to assess the compliance with recombinant growth hormone (rhGH) therapy in children diagnosed with growth hormone deficiency (GHD) and identify the factors that may influence compliance.Study Population and Methods: This multicentre study was conducted in 12 endocrine clinics in Poland. During routine visits, medical history, auxological measurements, laboratory tests, and the quantit...

Introduction: Hypochondroplasia (HCH) is a form of mild dwarfism caused by heterozygous gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3). FGFR3 is a negative regulator of endochondral bone growth, and individuals with HCH typically exhibit characteristics such as disproportionate short stature with shortening limb length, lumbar lordosis, and macrocephaly. Regarding recombinant human growth hormone (rhGH) therapy in children with H...

Background: Regional variations in height standard deviation scores (SDS) are documented in the literature due to a multitude of factors such as diverse ethnicities, social determinants, migration patterns, and lifestyle. Referrals to pediatric endocrine clinics for short stature are frequent, often guided by standardized criteria set for primary care or clinical indications from secondary care in the UK.Objective: 1) To...

Purpose: This study aimed to compare growth patterns and the achievement of catch-up growth (CUG) in small-for-gestational-age (SGA) infants at four years of age, based on the type of feeding during the first 4-6 months, using nationwide data.Methods: We included full-term 42,295 SGA children (21,917 boys; 52%) who participated in the first (4-6 months), second (9-12 months), third (18-24 months), and fifth (42-48 months...