ESPE2021 ePoster Category 2 Growth hormone and IGFs (31 abstracts)
GROWPATI Study: Growth and puberty description pattern in a well-characterized cohort of patients with growth retardation due to severe primary IGF1 deficiency
Athanasia Stoupa 1,2 , Isabelle Flechtner 1 , Magali Viaud 1,3 , Graziella Pinto 4 , Dinane Samara-Boustani 1,3 , Caroline Thalassinos 1 , Irene Netchine 5 , Frederic Brioude 5 , Serge Amselem 6 , Marie Legendre 6 & Michel Polak 1,2,3,7
1Pediatric Endocrinology, Diabetology and Gynecology Department, Necker Children’s University Hospital, Paris, France; 2Institut Imagine Affiliate, INSERM U1163 and U1016, Institut Cochin, Paris, France; 3Centre de Référence des Maladies Endocriniennes Rares de la Croissance et de Développement, Paris, France; 4Pediatric Endocrinology, Diabetology and Gynecology Department, Necker Children’s University Hospital, Paris, France; 5Sorbonne Université, INSERM UMR_S938, Centre de Recherche Saint-Antoine, Trousseau Hospital, Paris, France; 6Sorbonne Université, INSERM UMR_S933, Genetics Départment, Trousseau Hospital, Paris, France; 7Université de Paris, Paris, France
Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth delay. The diagnostic criteria include age- and sex-dependent low basal IGF1 concentration (<2.5th percentile), height SDS < -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.
Objectives: 1) Report the growth pattern and pubertal status 2) Identify the molecular causes of SPIGF1D 3) Describe the growth response after 1-year recombinant human IGF1 (rhIGF1) treatment in a young patient with ACAN mutation.
Methods: Our group has previously reported a SPIGF1D prevalence of 1.2% among children with growth retardation. This historical cohort was composed by thirty patients (out of 2546) referred to our Department between 2004 and 2009. We have further included 20 patients with SPIFGD. Data were collected concerning growth, puberty, and final height or near adult-final height, if available. Molecular studies are ongoing based on a candidate gene approach or next-generation sequencing gene panel.
Results: Twenty-two patients have already undergone genetic analysis: constitutional bone disease (n = 4), hypochondroplasia (n = 1), Laron syndrome (n = 1), heterozygous GHR mutations (n = 2), Noonan syndrome (n = 1), Silver-Russell syndrome (n = 2), heterozygous ACAN mutation (n = 1). No pathogenic variants in candidate genes of GH-IG1-bone axis included in the NGS gene panel were identified in 8 patients. Molecular testing is ongoing for 10 more patients (delayed because of Covid-19 epidemy). At inclusion all patients were pubertal stage 1. Mean actual age of patients in the historical and new cohort is 19.3 and 11.3 years respectively. Data are presented for the subgroup of 21 patients from both cohorts. Pubertal onset was normal with a mean age for Tanner stage 2 of 12.5 years for boys (n = 11) and 10.2 years for girls (n = 10). Two boys (one with SGA and one with idiopathic short stature, ISS) had advanced central puberty, treated by GnRH agonist. We present the case of a 4-year-old girl referred for growth delay; investigations showed SPIGF1D and molecular testing identified an heterozygous mutation in the ACAN gene. She was born SGA and at referral, her height was at -3SD and weight at -2SD. Growth response after 1 year treatment with rhIGF1is very satisfactory with actual height at -2SD and no adverse effects.
Conclusions: Genetic analysis reflect the heterogeneous spectrum of the disease. rhIGF1 treatment is indicated if criteria for treatment are fulfilled and should not be delayed. Long term follow-up along with molecular studies will provide us more insights in the understanding of SPIGF1D.
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