ESPE Abstracts

Background: Central diabetes insipidus may result from mutations in the preproAVP gene, most often heterozygous and occurring de novo or inherited in an autosomal dominant mode; in these cases, intracellular accumulation of the misfolded product of the mutated allele slowly destroys the AVP-producing neurons, so that the onset of symptoms may be delayed for up to 28 years by which time the posterior pituitary hyperintense signal is no longer visible on magnetic resonance imagi...

Background: Congenital panhypopituitarism is associated with a variety of gene mutations. Abnormalities in the Gli2 gene were only recently described to be associated with congenital panhypopituitarism (Franca et al. 2010). Gli2 is a gene that encodes a transcription factor downstream of the Sonic Hedgehog pathway – known to play an important role in morphogenesis during embryology.Objective and hypotheses: Although Gli2 mutations were described to ...

Background and Objectives: Childhood obesity is a global public health threat, with an alarming rise in incidence. Obesity at young age has short-term consequences, as well as long-term morbidity. It is, therefore, important to determine body composition longitudinal throughout infancy and childhood to prevent excess adiposity. Multiple methods are used to determine body composition in infants and young children, but none are described as suitable for longitud...

Background: A growth prediction model would not only allow patients with growth disorders the opportunity to see the expected effect of their recombinant human growth hormone (r hGH) treatment, but also support healthcare professionals to individualise treatment to optimise growth outcomes.Aim: To develop a growth prediction model in children with growth disorders.Patients and Methods: Height and c...

Background: In bilateral anorchia or vanishing testes syndrome, testicular function is normal during the embryonic period, as shown by the absence of Müllerian remnants and of hypospadias. Although normally differentiated, the penis may be small due to decreased testosterone secretion during the fetal period. In a normally virilised boy with non-palpable testes, with or without micropenis, the diagnosis is established by undetectable plasma anti-Müllerian hormone (AM...

Background: Treatment for growth disorders requires daily injections of recombinant human growth hormone (r-hGH) over multiple years, and automated devices may help in this regard. The ability to adjust injection device settings, which are pre-set as default unless changed by healthcare professionals, may improve patient comfort and needle anxiety and thereby improve adherence.Aim: To study the association between inject...

Background: The French population of the SAGhE study showed an increased morbidity and mortality due to cerebrovascular disease in growth hormone (GH) treated subjects compared to the general population. Cerebrovascular health can be assessed using neuroimaging markers on MRI. One of the markers is white matter hyperintensity (WMH).Objective: To assess cerebrovascular health by scoring WMH on MRI in young adults born sma...

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Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...

Background: Male preterm infants are at increased risk of neonatal mortality when compared to their female counterparts. The mechanisms explaining this male disadvantage are not fully elucidated yet.Objective and hypotheses: To compare glucocorticoid metabolite excretion in urine obtained at day 10 between male and female infants born with a very low birth weight (VLBW; i.e. <1500 g). We hypothesized that male preterm infants have impaired adrenocort...