ESPE Abstracts

Background: Central diabetes insipidus (CDI) in the neonatal age is usually a result of intracranial insult, either congenital or acquired. Familial CDI is usually an autosomal dominant disorder, presenting later in childhood (1-6 y) with polyuria and mostly caused by mutations in the Neurophysin II moiety of the AVP-NPII prohormone gene; these interfere with prohormone processing leading to gradual destruction of AVP secreting cells and result in arginine vas...

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related neuroendocrine, cognitive and visual morbidity. A recent international survey highlighted the considerable variation in management strategies employed for these tumours, and the lack of any evidence- a...

The use of recombinant adeno-associated viruses (rAAV) as safe vectors have allowed hundreds of gene therapy attempts to treat monogenic diseases not including bone genetic diseases (Gao G, Nat Rev Drug Dis 2019). To our knowledge, there has been few attempts to apply gene therapy to monogenic bone diseases, largely because most skeletal malformations are being developed during fetal life. Patients affected with acrodysostosis are known to aggravate their skeletal malformation...

Introduction: Osteopetrosis (OP) is a rare genetic disorder that is characterized by abnormal osteoclast function resulting in dense bones and marrow failure. The only definitive cure for OP is stem cell transplantation (SCT). Hypercalcemia is a well described complication in children with OP undergoing SCT. This study describes the calcium profile and treatment modalities used to maintain normocalcemia in children with OP undergoing SCT.<p class="abstext"...

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype.GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; ...

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...

Background: Severe hypertriglyceridemia, defined as triglyceride concentration greater than 11.2 mmol/L, predisposes to acute pancreatitis, a serious complication with mortality rate as high as 6.5% in children (1).Our case highlights the use of insulin infusion to rapidly lower the triglyceride level and the long term management in a young infant with familial chylomicronemia syndrome (FCS) due to lipoprotein lipase deficiency.<stro...

Objectives: Compared to the US, prevalence rates of T2DM in obese children are significantly lower in European countries. Data from cohorts of obese children living in the US suggest a concurrent worsening of insulin sensitivity and ß-cell function over the spectrum of glucose tolerance. If these results can be applied to European populations is currently unknown.Methods: A combination of our novel method for mathematical modelling ...

Puberty is a critical period for the development and acceleration of vascular complications in Type 1 diabetes (T1D). We have shown that metformin in addition to insulin improves vascular smooth muscle function and HbA1c in T1D children over 12 months (1). We aimed to determine if children with T1D who received metformin in a randomized controlled trial (RCT) [Trial registration ACTRN126110001148976] have a sustained vascular function improvement 3 years after ceasing metformi...

Background: Third generation aromatase inhibitors (AI) have never been used as monotherapy to increase predicted adult height (PAH) in girls. Our previously published GAIL study (J Endocrinol Invest. 2016 Apr;39(4):439–46) has shown that the combination of anastrozole to an LHRH analogue for 24 months is safe and effective in ameliorating PAH in girls with early puberty +1.21 SDS (+7.51 cm) compared to inhibition of puberty alone +0.31 SDS (+1.92 cm), P=...