IMPE Abstracts

Background: Vosoritide increases annualized growth velocity (AGV) in children with achondroplasia aged 5 to 18 years. This global, phase 2, randomized, double-blind, placebo-controlled study evaluated the safety and efficacy of vosoritide on growth in children with achondroplasia aged 3 months to <5 years.Methods: This study compared once-daily subcutaneous administration of vosoritide, at doses of 15 or 30 mg/kg of b...

Background: Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia, affecting between 1 in 15,000 to 1 in 30,000 live births. People with ACH are at risk for several significant co-morbidities, including foramen magnum stenosis, obstructive sleep apnea, chronic otitis media with conductive hearing loss, spinal stenosis, and a propensity towards obesity. PROPEL is a prospective, non-interventional study designed to examine baseline growth param...

Introduction: Short Stature (SS), defined as height below -2 SD, is a common reason for referral to pediatric endocrinologists. Genetic factors determine ~80% of adult height. Lately, next-generation sequencing (NGS) has led to the discovery of an increasing number of novel monogenic causes for SS.Objective: The aim of this work was to identify the genetic etiology of SS of unknown origin (SSUO) in children.<p class=...

Background: Achondroplasia (ACH) is the most common form of short-limbed skeletal dysplasias and is caused by an activating pathogenic variant of the fibroblast growth factor receptor 3 (FGFR3) gene. People with ACH are at risk for several significant co-morbidities, including foramen magnum stenosis, obstructive sleep apnea, chronic otitis media with conductive hearing loss, spinal stenosis, and a propensity towards obesity. Decreased bone mass was r...

Background: Bone age (BA) is commonly used in pediatrics to define skeletal maturity for medical and non-medical purposes. Normal range is represented by 2 standard deviations (SDs) &pm; the mean. A BA > &pm;2 SDs from the chronological age (CA) is considered abnormal. BA in achondroplasia (ACH) has not been fully characterized; calculation is challenging given difficulties in comparing x-rays with standard radiographs if using the Greulich-Pyle (G&P) m...

Background: Childhood obesity is associated with an increased risk of central precocious puberty (CPP).1 Thus, data on whether weight status affects the treatment of children with CPP would be valuable to help clinicians ensure proper management. Gonadotropin-releasing hormone agonists (GnRHa) are the gold-standard treatment for CPP.2 We present secondary analyses of hormone pubertal suppression data from the pivotal trial of the first small-volume, long-actin...

Background: Translocations involving the X and Y chromosome are rare in humans. Here we describe two cases diagnosed during the investigation of short stature. Case 1: She was born at 38 gestational weeks (GW), with birth weight (BW) SDS -1.5 and birth length (BL) SDS -2.7. At the first assessment, she had a chronological age (CA) of 11.3ys, a height SDS of -2.2, a sitting height-to-height SDS of 4.6, and Madelung´s deformity. The height SDS of her mothe...

Introduction: Most paediatric rare diseases have an underlying genetic cause but making a molecular diagnosis is often still a challenge. The incorporation of Next Generation Sequencing (NGS) technologies into research and clinical workflows has improved the diagnosis of these disorders.Objective: To evaluate the process of NGS implementation for the diagnosis of genetic endocrine diseases in a tertiary public paediatric...

Context: Growth hormone (rhGH) treatment has been shown to be effective in improving growth velocity and the adult height (AH) of short children born SGA if started early on. It is less effective when used to treat short SGA adolescents, as some fail to exhibit catch-up growth.Objective: The primary objective of this study was to evaluate the impact of Gonadatropin Releasing Hormone analogues (GnRHa), in addition to rhGH...

Introduction: Children classified as idiopathic short stature (ISS) may have a monogenic cause that can explain their growth disorder. In this context, genetic tests emerge as a new diagnostic tool. Objectives: To determine the usefulness of WES for the genetic investigation of children with ISS.Patients and Methods: We sequentially enrolled 95 children with ISS without previous genetic testing, except for karyotyping fo...

Introduction: Short stature is a common phenotype among patients with congenital syndromic disorders. However, the clinical diagnosis of such patients is often difficult because of their rarity and phenotypic complexity.Objective: To investigate the genetic etiology of syndromic short stature of unknown cause in our institute.Methods: We performed trio whole-exome sequencing in 35 ...

Introduction: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by genetic or epigenetic defects within the chromosome 11p15.5 region. BWS growth pattern with accelerated growth during infancy is widely known, and whenever there is a change in the expected growth, further investigation is warranted.Objective: To describe a patient with BWS and growth failure.Case report:</s...

Introduction: MS-MLPA is a specific and sensitive technique for detecting copy number variants and methylation defects in the regions of interest associated with imprinting diseases as Beckwith-Wiedemann (BWS) and Silver Russell (SRS) syndromes and. Both are growth disorders associated with opposite molecular alterations in the 11p15.5 imprinting locus.Aim: To analyze the diagnostic efficiency of MS-MLPA in a cohort of p...

Introduction: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly and protruding forehead in early life, body asymmetry and feeding difficulties. Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with an SRS-like phenotype remains without an etiological diagnosis. In the last few years, clinical reports have suggested that single...

Introduction: The Final height prediction (FHP) is a frequently used tool among pediatric endocrinologists. There are different methods which include height percentile, mean parental height, and bone age, but there is no consensus on clinical application in children with growth and puberty disorders.Objective: To investigate the clinical utility that Chilean pediatric endocrinologists grant to FHP; the methods used, the ...