hrp0097p1-216 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Genetic Evaluation in a cohort of children affect by idiopatic short stature.

Bianco Carlo , Aquisti Giulia , Montafia Ilaria , Pagliero Federica , Bellone Simonetta , Prodam Flavia , Rabbone Ivana , Partenope Cristina , Petri Antonella

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...

hrp0097p1-426 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

COMP Gene Variant causing short stature and skeletal dysplasia

Montafia Ilaria , Aquisti Giulia , Bianco Carlo , Pagliero Federica , Rabbone Ivana , Prodam Flavia , Petri Antonella , Partenope Cristina , Bellone Simonetta

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 ...

hrp0097p1-305 | GH and IGFs | ESPE2023

A rare case of microduplication 5q35.2-q35.3, also known as anti-Sotos syndrome, in a female patient.

Bianco Carlo , Montafia Ilaria , Pagliero Federica , Aquisti Giulia , Petri Antonella , Bellone Simonetta , Rabbone Ivana , Prodam Flavia , Partenope Cristina

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...

hrp0097p2-137 | GH and IGFs | ESPE2023

rhGH treatment in SGA patient with spondylo-epi-metaphyseal chondrodysplasia

Aquisti Giulia , Ilaria Montafia , Carlo Bianco , Federica Pagliero , Ivana Rabbone , Simonetta Bellone , Flavia Prodam , Antonella Petri , Cristina Partenope

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...

hrp0097p2-196 | Growth and Syndromes | ESPE2023

A case of ACAN mutation: from onset to final stature.

Pagliero Federica , Bianco Carlo , Aquisti Giulia , Montafia Ilaria , Prodam Flavia , Rabbone Ivana , Bellone Simonetta , Partenope Cristina , Petri Antonella

Short stature is a frequent disorder in the pediatric population caused by multiple possible reasons. One of them it can be the mutation of the ACAN gene, with an autosomal dominant transmission, which also correlates with accelerated bone maturation and early osteoarthritis up to bone dysplasia. A 10.8-year-old patient came to our observation for poor statural growth (125.8 cm, -2.6 SDS) with a parental target of 150.4 cm +/- 8 cm (-2 SDS), on Triptorelin braking therapy, sin...

hrp0097p1-82 | Fat, Metabolism and Obesity | ESPE2023

Leptin receptor’s mutation in a patient with childhood obesity and hyperphagia

Partenope Cristina , Dondi Elena , De Marchi Irene , Antoniotti Valentina , Monteleone Giorgia , Bianco Carlo , Montafia Ilaria , Pagliero Federica , Aquisti Giulia , Petri Antonella , Rabbone Ivana , Prodam Flavia , Bellone Simonetta

Introduction: Genetic factors play an important role in determining individual susceptibility to weight gain and obesity. In the last few years, several genetic variants have been identified as monogenic forms of obesity. Among them, Leptin (LEP) and its receptor on hypothalamic neurons (LEPR) are key players in the regulation of body weight, food intake and energy homeostasis. Pathogenic variants in the LEPR gene cause severe childhood-onset obesity with an a...