hrp0097rfc12.1 | Thyroid | ESPE2023

Macro-TSH IgG complex in a case of Congenital Hypothyroidism (CH).

Ippolito Alessia , Vincenzi Gaia , Abbate Marco , Campi Irene , Del Giacco Luisa , Pontillo Marina , Persani Luca , Barera Graziano , Cristina Vigone Maria

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...

hrp0097p1-203 | Adrenals and HPA Axis | ESPE2023

Adrenal insufficiency due to bioinactive ACTH caused by novel POMC variants

Illiano Sara , Vasaturo Sara , Andolfo Immacolata , Russo Roberta , Di Mase Raffaella , Moracas Cristina , Salerno Mariacarolina , Capalbo Donatella

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...

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 ...

hrp0097p1-468 | Fat, Metabolism and Obesity | ESPE2023

Efficacy of zinc and myo-inositol on weight loss and metabolic features in a pediatric population with obesity

Antoniotti Valentina , Colombo Alice , Mancioppi Valentina , Solito Arianna , Partenope Cristina , Petri Antonella , Rabbone Ivana , Ferrante Daniela , Prodam Flavia , Bellone Simonetta

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...

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...

hrp0098t8 | Top 20 Posters | ESPE2024

Predicting the risk of fragility fractures in childhood hematologic cancer survivors

Cima Luminita-Nicoleta , Iustina Grosu , Oprescu Raluca , Soare Iulia , Gabriela Barbu Carmen , Colita Anca , Jercan Cristina , Serbanica Andreea , Fica Simona

Background: Childhood hematologic malignancies are no longer a death sentence. With survival rates significantly increasing, focus needs to shift towards diminishing long-term adverse effects, such as bone disorders. In childhood hematologic cancer survivors (CHCS), peak bone mass is not usually attained due to malginancy-related inflammation, treatments employed or subsequent endocrine complications. Thus, low BMD is frequent. However, in the absence of fragi...

hrp0098p3-11 | Adrenals and HPA Axis | ESPE2024

Primary adrenal insufficiency: casuistry of a third level hospital

Aguilar-Riera Cristina , Clemente María , González-Llorens Núria , Mogas Eduard , Campos-Martorell Ariadna , Yeste Diego

Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. It is defined as insufficient production or lack of action of glucocorticoids. Congenital adrenal hyperplasia (CAH) is the most common childhood cause, although numerous monogenic causes unrelated to CAH have been identified. Description of the etiology, age at diagnosis, clinical and biochemical characteristics, treatment and genetics of patients diagnosed with PAI between 0-18 years of age reviewed...