ESPE Abstracts

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...

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...

Introduction: Papillary thyroid carcinoma (PTC) in the pediatric and young adult population presents contradictory features: it shows higher rates of multifocal disease, local and distant metastasis, and recurrence compared to adults, yet the overall 5-year survival rate remains exceptionally high at 98-100%. In children, RET/PTC rearrangements are the major somatic genetic alterations that drive the formation of PTC. On the other hand, mutations in <...

Background: MADaM syndrome associated with MTX2 gene, is a very rare premature-aging syndrome, caused by a homozygous mutation in the MTX2 gene, which encodes for metaxin-2, a mitochondrial outer membrane protein involved in protein translocation into mitochondria and in TNF-a- induced apoptosis.Case report: Term male newborn, due to a physiological pregnancy [birth weight 4230 g (1.61 SD), length 56 cm (3.24 SD), head c...

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

Introduction: The assessment of IGF-1 concentrations is one of the parameters used for evaluating response to rhGH treatment. An increase in IGF-1 concentration positively correlates with growth improvement. The IGF-1 concentrations significantly above the reference range may increase total the risk of possible side effects. High IGF-1 concentration is one of the reasons for rhGH dose reduction which affects the response to treatment.<st...

Background: Achondroplasia is a genetic disorder that belongs to a large group of skeletal dysplasias that is caused by a missense mutation in the gene encoding FGFR-3 resulting in its constitutive upregulating. This interferes with the receptor's tyrosine kinase domain causing inhibition of cartilage tissue cells and the formation of abnormalities in the bone growth plate leading to defective skeletal development and a disproportionately short stature wi...

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...

Introduction: Signs of hyperandrogenemia are common through adolescent and young females, hirsutism affecting 5% of reproductive -aged women. The most common cause of hyperandrogenemia and insulin resistance (IR) is polycystic ovary syndrome (PCOS) (1). The differential diagnosis includes congenital adrenal hyperplasia (CAH) (2), androgen secreting tumors, but also very rare genetic syndromes of IR.Case report: A 13 year...

Introduction: Nephroblastoma or Wilms tumor is the most common pediatric abdominal malignancy. Typically, it is found in children younger than 5 years old, girls being more likely to have Wilms tumor than boys. The etiology of the disease is genetic, due to alteration in the development of the genitourinary tract.[1] Treatment is represented by surgery (unilateral nephrectomy), chemo- and radio-therapy. Paraneoplastic endocrine disorders may occur, but there a...