ESPE Abstracts

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification (HO) following flare-ups. The median age at diagnosis is 5 years, and patients are managed by multiple specialties. No study to date has provided a longitudinal evaluation of FOP. Final data are presented for participants, aged <25 years, enrolled in the first 36-month, prospective, global natural history study of FOP (NCT02322255).</...

Background: Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. Preliminary studies in animal models have suggested a link between exposure to PBDE and alterations of puberty and reproduction.Objective and hypotheses: To investigate the association between the exposure to PBDEs and alterations of puberty in girls, referred for idiopathic premature thelarche (IP...

Background: 46,XY gonadal dysgenesis (GD) is a spectrum disorder which lead to variable degrees of atypical external genitalia, ranging from female to micropenis and absent of gonadal tissue (known as Embryonic Testicular Regression Syndrome -ETRS). Most patients with 46,XY GD remains without a molecular diagnosis.Objective: To report the DEAH-box helicase 37 gene (DHX37) as a novel candidate for the GD etiology.Patients a...

Background and Aims: For years Georgia belonged to a iodine deficiency endemic region, though as a result of a long-term actions aimed at improving the iodine status the country today is a non-iodine deficient region. For this reason it was decided to study present iodine status of newborns and their mothers leaving in the capital of Georgia, which is no longer non-iodine region.Materials and Methods: In total 87 newborn...

Background: Over the recent years there have been more and more cases with DM type 1 and thyroid autoimmune diseases.Objective: To study course of autoimmune thyroiditis in children and adolescents with DM type 1.Methods: From 758 children with DM type 1 we identified high risk cohort (thyroid gland palpation and clinical symptoms) and performed thyroid US and TSH, fT4, anti-TPO, anti-TG, and HbA1c testing. Cohort group,...

Background: We present a 3 years old boy born on term from young non-consanguineous parents with negative family history. Shortly after birth swelling of the feet and multiple generalised erythematous cutaneous plaques and nodules gradually appeared. Recurrent fever attacks, hepatosplenomegaly, significant growth delay (height – 4.0 S.D.) and progressive loss of subcutaneus fat tissue followed.Objective and hypotheses: Laboratory inve...

Background: The use of international or local growth charts for the definition of pediatric obesity is still debated. Inappropriate reference standards may lead to under/over-estimation of the prevalence and consequently of the number of patients to be included in diagnostic work-up.Objective and hypotheses: To define the differences between patients considered obese according to either CDC or Italian growth charts.Method: A single...

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a very rare recently delineated disorder with Dandy-Walker malformation, congenital heart defects and dysmorphic craniofacial features; however, the full spectrum of this disorder has not been determined.Objective and hypotheses: To present a patient with short stature and growth hormone (GH) deficiency as a part of the clinical manifestations of Ritscher-Schinzel syndrome.<p class="abstext...

Background: Transient hypothyroxinaemia of prematurity (THOP), defined as low levels of FT4 without the expected TSH surge, may concern up to 50% of infants born <30 weeks’ gestational age. Most studies showed a link between THOP and impaired neurodevelopment, as shown in the review of Eerdekens. Data about the benefit of supplementation are scarce, with few randomised trials and inconclusive results. To date, there are no clear recommendations regard...