ESPE Abstracts

Objectives: To describe the auditory phenotype and dynamics of hearing thresholds in patients with Turner Syndrome (TS).Patients and Methods: Cross-section study evaluating the hearing thresholds in 246 TS patients (age range 4-44 yrs). Patients were divided into three age groups: Group 1 (79 TS, age range 4.0-12.9 yrs); Group 2 (109 TS, age range 13.0-25.9 yrs,) and Group 3 (66 TS, age range 26.0-44.9 yrs,). Pure tone a...

Background: Screening for congenital hypothyroidism (CH) with the possibility of an early treatment has transformed the outlook for children with CH. Despite the unquestioned public health success of newborn screening programs, the management of CH is still controversial. Most patients with positive screening have permanent hypothyroidism but some of them may have transient hyperthyreotropinemia, so it is important to identify these patients in order to avoid lifelong unnecess...

Background: First line treatment for an ACTH-secreting pituitary adenoma is transsphenoidal resection (TSR) of the tumor. Treatment options for patients with recurrent or persistent disease after surgery include another TSR, medical management, bilateral adrenalectomy, radiosurgery, or a combination of these. Radiosurgery represents a potentially curative treatment option for patients with recurrent or persistent disease.Case presentation: A boy was diag...

Background: It is reported that children with congenital hypothyroidism (CH) are at increased risk of developing childhood obesity. Moreover, it is known that the timing of adiposity rebound (AR) in childhood is strongly linked with future obesity. Aims of our study were to explore the timing of AR and to identify factors affecting AR in a cohort of children with CH diagnosed by newborn screening and treated with levothyroxine. Design: one-center, retrospectiv...

Background: Heterozygous loss-of-function variants of fibroblast growth factor receptor 1 (FGFR1) are genetic causes of Combined Pituitary Hormone Deficiency (CPHD), Kallmann syndrome (KS) with anosmia/iposmia, Congenital Hypogonadotropic Hypogonadism (CHH) with normosmia and Septo-Optic Dysplasia. It is well-known that these variants are the main genetic factor underlying the development of CHH and KS; however, they have only occasionally been identified in C...

Obesity is increasing, and the related complications are well known. Clinical Trials related with specific diets are currently lacking in paediatrics. There is an increasing interest in Mediterranean diet (MD). The Med4Youth European study* has enrolled 240, 13- to 16-year-old subjects with a BMI above the 90th percentile(WHO curves) in a multicenter randomized controlled trial (Italy, Spain and Portugal) to evaluate the effects of MD. We present the data relative to the 80 su...

Introduction: Pediatric obesity is associated with an increased risk of serious long-term complications. Therapeutic failure is influenced by several factors, such as the high dropout rate. A retrospective study was conducted on a cohort of children and adolescents with essential obesity, in order to evalute (1)the average duration of a correct follow-up and the percentage of weight loss at the end of it, (2)the rate of drop-out, researching related factors.</...

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

Background: At present few data have clearly showed an increased frequency of idiopathic central precocious puberty (CPP) in females during the COVID-19 pandemic. The role of environmental factors is not fully understood and various hypotheses have been formulated.Aims of the study: To evaluate retrospectively the incidence of newly diagnosed CPP and other pubertal disorders (Premature thelarche, early puberty, fast pube...

Background: Injuries occur frequently in the obese young population even if they need to practice physical activity. The greatest part of Italian adolescents plays sports only at school.Objective and hypotheses: The aim of the study was to investigate the relationship between overweight and obesity, and the risk of injuries in adolescents during school physical activity.Method: This is a retrospective cohort study utilizing the ele...