ESPE Abstracts

Up to 10 % of short stature has been estimated to be due to celiac disease. Celiac disease has been considered a rare condition outside of the Western world but recent publications (Singh P et al, Clin Gastroenterol Hepatol 2018 Jun 16 (6): 823-836, Yuan J et al, Clin Gastroenterol Hepatol 2017 Oct;15(10): 1572-1579) have shown that celiac disease is also present in Asians. While Tissue Transglutaminase IgA (tTg-IgA) has been considered to be a sufficiently sensitive test to e...

Fertility is dependent on the normal development of germ cells, which is controlled by hormones and paracrine factors produced by the somatic cells within the gonads. However, exposure to cancer treatment during childhood can cause damage to the gonads leading to infertility in adulthood [1]. This presentation will explore how various cancer treatments affect gonadal function based on clinical evidence in patients [2], experimental models involving animals and studies utilisin...

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

Introduction: Rege et al. (2018) demonstrated that 11-keto-testosterone (11KT) is the dominant androgen in girls during adrenarche. Claahsen-van der Grinten et al. (2022) proposed C19 oxysteroids as a potential parameter for therapeutic control in congenital adrenal hyperplasia (CAH). Turcu et al. (2016) observed a significant elevation in C19 oxysteroids in patients with 21-hydroxylase deficiency (21OHD). Currently, C-19 oxysteroids...

Background: LUM-201, a potent long-acting oral GH secretagogue (GHS), acts on the GHS Receptor-1a to induce GH secretion. The best candidates for this investigative oral treatment are pre-pubertal children with moderate GHD (standard stimulation testing peak GH between ≥3 <10ng/ml) that respond positively to the LUM-201 Predictive Enrichment Marker (PEM) test (Bright et al JES, 2021). PEM positive responders have basal serum IGF-1 >30ng/ml and a peak ...

Introduction: In healthy adolescents, there is significant inter-individual variation in the timing of peak height velocity (PHV) and the total growth achieved during puberty. The relationship between physical changes of puberty and pubertal growth has been studied previously, but further detail is needed for use in clinical practice, especially where there are worries that early or late pubertal onset will curtail the magnitude of the pubertal growth spurt. O...

Background: The calcium-sensing receptor (CASR) is Class C G protein-coupled receptor (GPCR). CASR is responsible of calcium set point and it is expressed in several tissues: parathyroid, C-Cells, and kidney cells. CASR activating mutations are responsible of autosomal dominant hypocalcaemia 1 (ADH1; OMIM # 601198) and more than 100 different mutations have been described. ADH1 is not always associated with hypercalciuria. Nagase et al. described for ...

Introduction: Growth Hormone Deficiency (GHD) is a critical condition that impairs the normal growth patterns in children, leading to various health challenges. Previous studies, including that by Leger et al. (1996), have characterized the secretion curve of growth hormone (GH) in early childhood. Our study aims to link the timed infantile growth data, specifically Length and Weight Standard Deviation Scores (LSDS and WTSDS), of children with diagnos...

Introduction: Previous studies have demonstrated varying patterns of growth in children with Growth Hormone Deficiency (GHD), particularly in the first two years of life, a period crucial for growth and development. This study aims to compare the early growth patterns, specifically the rate of catch-down growth in the initial months post-birth, of children diagnosed with GHD. By juxtaposing our findings with existing literature, we seek to deepen the understan...

Introduction: Vosoritide increases growth in children with achondroplasia aged 5–18 years (Savarirayan et al, Genet Med, 2021). We recently reported results from a phase 2, randomized, double-blind, placebo-controlled study (111-206) in young children with achondroplasia aged 3 months–5 years Here we present results from an open-label extension study (111-208) spanning up to 4 years of treatment in the children aged 2-5 years at study star...