ESPE Abstracts

Background: There is an urgent need for better detection of early subclinical manifestations of microvascular complications of diabetes such as peripheral neuropathy (DPN), which already occur in children. The gold standard for the diagnosis of DPN is the measurement of nerve conduction velocity (NCV), which, however, can only detect changes in the large myelinated fibres. At the initial stage of DPN, small, unmyelinated nerve fibres are damaged. High-resoluti...

Introduction: Sex chromosome abnormalities (SCAs) are genetic conditions characterized by deviations in the number or structure of the sex chromosomes, present in 1 in 400 newborns. Despite their clinical significance, many patients with SCAs are diagnosed late in life or remain undiagnosed, leading to delayed or inadequate medical intervention. Karyotyping, the gold standard for diagnosis, is unsuitable for population-based newborn screening, as it is time-co...

Introduction: McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic activating mutation of GNAS1 encoding the Gs-alfa subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades leading to the classical trias: polyostotic fibrous dysplasia, café-au-lait hyperpigmentation and GnRh independent precocious puberty. Early manifestation is accompanied with multiple organ involvement and may lead to ACTH-indepe...