hrp0098p2-347 | Late Breaking | ESPE2024

Effects of Music at 432 Hz on Biological Stress Responses in Infants born Preterm and at Term

Cauzzo Chiara , Chiavaroli Valentina , Di Valerio Susanna , G B Derraik José , Rossi Claudia , Zucchelli Mirco , Lucia Tommolini Maria , Federici Luca , Coclite Eleonora , Mohn Angelika , Chiarelli Francesco

Background: Health professionals are increasingly aware that the acoustic environment in the Neonatal Intensive Care Unit may affect infants’ well-being. Where unpredictable noise adversely affects sleep and physiologic stability, meaningful auditory stimulation might have positive effects, primarily in the short term. Furthermore, evidence is now emerging regarding beneficial long-term effects on neurodevelopmental outcomes. Notably, recent literature s...

hrp0098p2-154 | GH and IGFs | ESPE2024

Two Clinical Cases of Growth Hormone Insensitivity Overlapping Disorders: STAT3 Gain-Of-Function Syndrome and Meier-Gorlin Syndrome.

Del Medico Giulia , Consonni Filippo , Gambineri Eleonora , Stagi Stefano

Growth Hormone insensitivity (GHI) is characterized by short stature, GH resistance and IGF-1 deficiency. Classical GHI includes defects in the GH receptor and other genetic abnormalities downstream the GH cascade. Various short stature syndromes have phenotypes that overlap with GHI. This report discusses two cases of nonclassical GHI. Patient 1 is a boy with STAT3 gain-of-function syndrome (STAT3 GOF), characterized by immune dysregulation and growth failure. He developed ea...

hrp0089p2-p408 | Thyroid P2 | ESPE2018

The Congenital Hypothyroidism Screening Programme in a Sigle Italian Centre: a 5-Years Retrospective Study

Maggio Maria Cristina , Ragusa Saveria Sabrina , Aronica Tommaso Silvano , Granata Orazia Maria , Gucciardino Eleonora , Corsello Giovanni

Congenital hypothyroidism (CH) occurs in approximately 1:2000–1:3000 newborns in Italy. Lowering of the TSH cut-off was the most important factor contributing to the increase of CH incidence in Italy. The aim of this study is the determination of the prevalence of CH in northwest Sicily, evaluated by the single screening centre of the Children Hospital ‘G. Di Cristina’, ARNAS, Palermo. From January 2013 to December 2017, 79.699 newborns were screened testing TSH...

hrp0084p3-631 | Autoimmune | ESPE2015

Oocyte Cryopreservation in a Patient with Premature Ovarian Failure due to Autoimmune Polyendocrine Syndrome Type 2

Balsamo Claudia , Porcu Eleonora , Baronio Federico , Forchielli Luisa , Bazzocchi Antonia , Mazzanti Laura , Cassio Alessandra

Background: Autoimmune polyendocrine syndrome type 2 (APS2) is a complex disorder characterised by the obligatory occurrence of Addison disease in combination with thyroid autoimmune disorder and/or type 1 diabetes. APS 2 is the most common autoimmune polyendocrine syndrome and is primarily manifest in adult age. Premature ovarian failure (POF) is defined as sustained amenorrhea before the age of 40 years, FSH levels higher than 40 UI/l and hypoestrogenism associated with infe...

hrp0097p2-123 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Hypophosphatasia: a pediatric patient treated with asfotase alfa

Orlandini Eleonora , Schiavariello Concetta , Tamburrino Federica , Perri Annamaria , Mazzanti Laura , Pession Andrea , Scarano Emanuela

We describe a 5 years-old patient referred to our centre for dysmorphic features and delayed psychomotor development. Negative family history, second child, full-term birth, eutocic delivery, regular growth parameters at birth and neonatal adaptation. Autonomous walking at 20 months with clumsiness; first words at 2 years with dysarthria and dysphagia. Brain MRI and array-CGH were normal. At the neurological examination: perioral hypotonia, sialorrhea, praxic difficulties. At ...

hrp0098p3-122 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2024

Challenging management of an extreme preterm neonate with persistent hypoparathyroidism

Partenope Cristina , Capra Eleonora , Binotti Marco , Giraudo Isaac , Petri Antonella , Rabbone Ivana , Prodam Flavia , Bellone Simonetta

Background: Symptoms of hypocalcaemia in neonates are nonspecific, including irritability, fine tremors and seizures or sudden death due to arrhythmias. Transient hypoparathyroidism is common in the first days of life in preterm infants. Permanent hypoparathyroidism is primarily due to genetic or autoimmune factors, with post-surgery or infiltration-related forms being rare in pediatrics.Case Presentation: A baby was bor...

hrp0092p3-283 | Late Breaking Abstracts | ESPE2019

Comparison of Densitometric Aspects during the Transition Period in Patients with Congenital and Acquired Pituitary Deficiency: First Argentine Experience

Boquete Hugo , Boquete Carla , Ruibal Gabriela , Suarez Martha , Azaretzky Miriam , Nuñez Chavarria Eleonora , Sequera Ana , Fideleff Hugo

The transition phase is the period from the end of puberty until achievement of full adult maturity. We report the results from 45 patients with pituitary deficiency (15-24.9years), 28 (16males) with congenital insufficiency (G1) and 17 (10males) with acquired disease (G2), evaluated at the end of GH therapy. All cases had confirmed GH deficiency; 89.2 % of cases from G1 had multiple pituitary deficiencies (TSH 23/28, LH/FSH 19/28, ACTH 15/28 and Prolactin 3/28), 94.1 &#37...

hrp0097p1-515 | Growth and Syndromes | ESPE2023

Two novel cases of CHOPS syndrome support the evidence of a highly homogeneous phenotype including short stature with skeletal abnormalities and obesity

Orlandini Eleonora , Montanari Francesca , Severi Giulia , Tamburrino Federica , Schiavariello Concetta , Perri Annamaria , Cesarini Sofia , Soliani Luca , Scarano

Emanuela

CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...

hrp0086p2-p761 | Pituitary and Neuroendocrinology P2 | ESPE2016

Paediatric Cushing Disease: One Patient’s Path to Cure

Yordanova Galina , Iotova Violeta , Zheleva Eleonora , Bachvarov Chavdar , Bocheva Yana , Galcheva Sonya , Enchev Yavor , Ivanov Krasimir , Kolev Nikola , Tonev Anton , Storr Helen

Background: Paediatric Cushing disease (CD) is rare but can be severe. Diagnosis and proper management are often delayed and the course of disease is unpredictable. Support from experts in the field is essential.Objective and hypotheses: We present a male patient, diagnosed with Cushing syndrome elsewhere more than two years after his initial signs and symptoms. For 6 months he underwent numerous investigations, which were inconclusive and was left untre...

hrp0084p3-780 | DSD | ESPE2015

Clinical Findings, Endocrine Profile and Genetic Features of 5α-Reductase-2 Deficiency

Russo Gianni , Baldinotti Fulvia , Ghirri Paolo , Meroni Silvia , Colombo Ilaria , Moscuzza Francesca , Baroncelli Giampiero I , Sessa Maria R , Dati Eleonora , Bertelloni Silvano

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....