ESPE Abstracts

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

Introduction: it has been widely demonstrated that high physical activity (PA) levels prevent obesity development. The practice of moderate, regular PA reduces abdominal obesity, hypertension, insulin resistance, dyslipidemia and improves risk factors for obesity-related comorbidities (e.g. diabetes or cardiovascular diseases) independently of weight loss. However, in the childhood population, where sedentary behavior has increased in recent decades, few studi...

Aim: to evaluate sleep quality by accelerometry and its association with anthropometry and biochemical parameters in children and adolescents after a multidisciplinary interventionSubjects Materials and Methods: One hundred and twenty-two children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a multidisciplinary intervention study to lose weight. Abdominal obesity was diagnosed using the waist circumference...

We present the case of a five-day female admitted to our Paediatric Unit due to TSH elevation (bTSH 303 mIU/L) on routine neonatal screening for congenital hypothyroidism (CH). The patient was born at 38 weeks’ gestation by c-section presenting with adequate auxological parameters. Her mother suffered from Hashimoto’s disease, already diagnosed before pregnancy, and requiring Levo-thyroxine therapy (L-T4). Blood tests performed at five days of life revealed the pre...

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by ACTH-resistant isolated cortisol deficiency. FGD usually presents with hypoglycemia, convulsions, prolonged jaundice, and marked skin hyperpigmentation in the early period of life. Several defects in MC2R, MRAP, MCM4, NNT, and TXNRD2 genes are related to FGD. In all these situations, plasma ACTH is high. By contrast, all reported cases of glucocorticoi...

Short stature is a common clinical presentation in children. New genetics approache such as “Next Generation Sequencing” have recently reported many monogenic defects in genes related to the growth plate cartilage and in GH-IGF-1 axis. The purpose of this study was to analyze a cohort of 64 patients (31 females and 33 males) affected by ISS. The patiens have been subjected to genetic investigations by performing an NGS panel of genes involved in growth, the evaluat...

Introduction: Short stature is one of the main reasons leading a patient to the attention of the Pediatric Endocrinologist. It is important to know the possible causes of short stature, even the rarest genetic mutations associated with short stature. Although the diagnosis of short stature is primarily the result of physical examination with anthropometric measurements, biochemical and radiological data, genetical tests currently play an important role.<p ...

Pediatric obesity is constantly increasing and exposes to serious cardiovascular and metabolic risks. The first treatment against obesity is lifestyle change. Actually, any intervention seems to be effective on the evolution of this condition, especially in the long term. For this reason, the interest in non-pharmaceutical compounds is growing. Several studies mentioned the use of zinc and inositol as compounds acting on weight loss and insulin resistance. The aim of this stud...

V.C. was referred to our Centre for short stature. The mid-parental target height was 153 cm (-1,6 SDS). Her mother had one spontaneous abortion and displayed mild short stature (151,5 cm). Her father had Arnold Chiari syndrome type 1 and was 165,9 cm tall. V.C. was delivered at term after in-vitro-fertilization pregnancy with intrauterine growth retardation (IUGR) from gestational week 21. Birth weight was 2160 g (SGA, SDS -3,17); length was 45 cm (SDS -2,92); head circumfere...

We report rhGH-treatment results in a 14-yrs-old SGA patient with spondylo-epi-metaphyseal chondrodysplasia. The patient carries a rare de novo eterozygous variant of COLA1 (c.1510G>A, P.Gly 504Ser) associated with a rare AD spondylo-epiphyseal dysplasia. Born at term after olygohidramnios-complicated pregnancy, SGA for weight and lenght, the patient has showed a post-natal reducing growth with regular cognitive development. At the age of two height was -4 SDS, with parenta...