ESPE Abstracts

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...

Background: Mutations in SHOX or its regulatory regions have been detected in ~70% of Léri-Weill dyschondrosteosis (LWD) and ~2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. Recent studies have identified NPR2 defects in ISS patients.Objective and hypotheses: To investigate if NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX/PAR1 mutation was detected.<...

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

Introduction: Thyroid carcinoma in pediatric and young adult population presents contradictory features: it has higher rates of multifocal disease, local and distant metastasis and reccurence compared to the adult population, yet the 5-year survival rate is 98%. The rising incidence seen recently cannot be entirely explained by overdiagnosis, as increasing rates of advanced-stage disease are also observed. The rise consists primarily of papillary thyroid carci...

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...

Introduction: Growth disorders are often caused by monogenic conditions, and genetic investigation should be guided by clinical findings. However, in children with ISS, the absence of specific clinical features prevents the candidate gene approach. ACMG practice guideline (2021) recommends that children with ISS could be evaluated using targeted panel sequencing or WES. In commercial laboratories, WES is often performed and the genetic evaluation is offered as...

Background: Wilms' Tumor Suppressor Gene 1 (WT1) plays an essential role in urogenital and kidney development. Germline variants in WT1 are associated with life-threatening glomerulopathy, disorders of gonadal development in both 46,XY and 46,XX individuals, Wilms tumor, and gonadal malignancies. Phenotypic overlap among 46,XY affected subjects has been frequently observed and there is still scarce information regarding renal involvement...

Background: Hereditary hypophosphatemic rickets (HHR) comprises a group of rare disorders characterized by renal phosphate wasting and impaired vitamin D metabolism. Numerous genetic defects can underlie this condition, with the X-linked dominant form (XLHR) being the most prevalent (1 in 20,000 individuals) resulting from inactivating variants in the PHEX gene.Aim: To characterize a large cohort of 99 argentini...

Objective: To identify factors influencing compliance with daily recombinant growth hormone (rhGH) therapy in children and adolescents with growth hormone deficiency (GHD) and born as small for gestational age (SGA) based on data from two European paediatric endocrinology centres.Study population and methods: The study population included 130 patients with GHD or SGA from Szczecin (Poland) and Messina (Italy); 53% of pat...