ACAN Pathogenic Variant as a Cause of Short Stature

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ACAN Pathogenic Variant as a Cause of Short Stature

Case Report

Diana Reis Monteiro

Pediatrics and Neonatology Department, Centro Hospitalar de Entre-o-Douro e Vouga, Santa Maria da Feira, Portugal
http://orcid.org/0000-0002-0827-8723

Miguel Leão

Department of Medical Genetics, Centro Hospitalar de São João, Porto, Portugal

Maria Adriana Rangel

Pediatric Endocrinology and Nutrition Unit, Centro Hospitalar de Vila Nova de Gaia / Espinho, Vila Nova de Gaia, Portugal

Rosa Arménia Campos

Pediatric Endocrinology and Nutrition Unit, Centro Hospitalar de Vila Nova de Gaia / Espinho, Vila Nova de Gaia, Portugal

Ana Luísa Leite

Pediatric Endocrinology and Nutrition Unit, Centro Hospitalar de Vila Nova de Gaia / Espinho, Vila Nova de Gaia, Portugal

DOI: https://doi.org/10.25754/pjp.2023.26109

Abstract

Pathogenic variants of the aggrecan (ACAN) gene have been associated with a wide spectrum of growth modifications ranging from idiopathic short stature to severe skeletal dysplasia. We reported a case of an 8-year-old male observed in a pediatric endocrinology consultation for short stature (-3.46 standard deviation score). Investigation revealed a bone age advance of less than one year, somatotropin stimulation tests with clonidine and L-DOPA level of below 7 ng/dL, the normal value of insulin-like growth factor 1, and normal brain magnetic resonance. He started treatment with subcutaneous somatropin by 8.8 years. Over the years some traits on physical examination became more notorious, namely an upper segment longer than the lower, muscled appearance, broad thumbs, macrocranea, and mild bilateral eyelid ptosis. Clinical exome sequencing revealed a pathogenic variant c.1020del in the ACAN gene.