ESPE Abstracts

Background: Somatotropinomas are rare in childhood and are frequently associated with genetic mutations. AIP mutations are found in 20–25% cases of sporadic pediatric adenomas and are most commonly associated with GH secreting tumours that are large, aggressive and may be resistant to medical therapy.Objective and hypotheses: To assess response to Pegvisomant, a GH receptor antagonist in two children with sporadic somatotropinomas due to AIP mutatio...

Background: Real-time CGM data includes ‘trend arrows’ which indicate when the blood glucose is rapidly falling or rising thus enabling the pump user to make immediate adjustments in insulin delivery to prevent subsequent low or high blood sugars. However, effective strategies for adjusting insulin boluses based on CGM trend arrows are lacking. Previous studies recommended that boluses be adjusted based on trend arrows using a standard 10–20% increase/decrease o...

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

Background: MODY is characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. We report a 15 year girl with a HNF1A mutation who presented with MODY without a positive family history.Objective and hypotheses: HNF1A-MODY is often misdiagnosed as type 1 or type 2 diabetes. Genetic confirmation of MODY in insulin-treated patients helps in making changes in the treatment modality as ...

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...

Introduction: Gliomas are the most common solid tumours during childhood. In children with neurofibromatosis Type 1 (NF1) and optic pathway glioma (OPG), growth hormone excess has been described. However, this phenomenon has not been reported in children with OPG without NF1. We aimed to describe the growth and IGFs/IGFBP3 levels in a large cohort of paediatric patients with non-NF1- associated central nervous system (CNS) tumours.Method...

Thyroid cancer is the most common secondary malignancy for survivors of childhood cancer, with radiation exposure before age 18 being the most significant risk factor. Current guidelines from the Children’s Oncology Group recommend yearly physical examination to palpate for thyroid nodules. Whilst other societies recommend periodic thyroid ultrasound, further evaluation with fine needle aspirate is typically not considered for nodules less than 10mm in diameter. We descr...

Introduction: Hypopituitarism has been reported to be associated with lower quality of life (QoL), marital rates, and sex-life satisfaction in adulthood in patients with GH deficiency. Very few studies have examined this in those with childhood-onset multiple pituitary hormone deficiency (COMPHD).Aims: To evaluate QoL in adults with COMPHD.Subjects and methods: All COMPHD patients aged (≥18 years were identified from medical ...

Background: Children born small for gestational age (SGA) with poor growth during the first years of life often remain with short stature during childhood and as adults.Objective and hypotheses: To evaluate the effects of gender and gestational age (GA) on outcomes of GH treatment in very young children born SGA.Method: 620 short SGA children on GH treatment enrolled in KIGS (The Pfizer International Growth Database) were analysed:...