ESPE Abstracts

Introduction: McCune–Albright syndrome (MAS) is a rare disease defined by café-au-lait spots, gonadotropin-precocious puberty and fibrous dysplasia. It could be associated with others endocrinopathies: thyroid involvement as a common feature. The prevalence is very low, being outstanding the neonatal diagnosis, especially in males.Case presentation: A male term newborn with a café-au-lait extensive spot involving the back, arms, legs and s...

Background: Congenital growth hormone deficiency may be isolated (IGHD) or multiple pituitary hormone deficiency (MPHD). The Sonic Hedgehog signalling (SHH) pathway has an important role in the pituitary development and growth, acting early in ventral forebrain. The SHH signalling mediates its effects through three zinc fingers proteins (Gli1, Gli2 and Gli3), which lead to activation or repression of target genes. Several heterozygous GLI2 mutations have been reported in patie...

Background/Introduction: Whole exome sequencing (WES) revolutionized clinical genetics in patients with differences of sex development (DSD). However, our ability to interpret WES data is limited by our incomplete understanding of the mechanisms involved in DSD. Thus, we created a methodology that scores potential candidates based on single cells transcriptomics of human male gonadal cells and applied it to WES data from a cohort of genetically male (46,XY) DS...

Drosophila melanogaster as a study model has already significantly contributed to the understanding of the mechanisms of many human diseases. So far D. melanogaster has rarely been exploited as a model for human sex development. Nanda et.al already demonstrated in 2009 that the Drosophila orthologue of SOX9, Sox100B is essential for testis development in Drosophila. Similarly, we could demonstrate that the fly homolog of STARD8, cv-c</...

Introduction: Neonatal Diabetes Mellitus (NDM) is characterised by severe hyperglycaemia, usually diagnosed in the first 6 months of life. Genetic diagnosis helps distinguishing between its different causes and between transient (TNDM) and permanent (PNDM) forms, with repercussions on the therapeutic approach and follow-up.Aim: Clinical and molecular characterisation of a series of NMD cases under endocrinological follow...

Introduction: A transgender individual’s voice may contribute to the negative psychosocial outcomes. Some studies have shown that an incongruence between one’s voice and internal gender identity can be a potential source of ongoing psychological distress and could impact on their social interactions, employment outcomes, and invite verbal or physical harassment. This study was aimed to examine whether early puberal blockage (PB) impacts on self per...

Mutations in genes of the RAS/MAPK signalling pathway have been shown to cause several syndromes characterized by dysmorphic features, growth retardation, cognitive impairment, heart disease and cutaneous abnormalities. The GHrh treatment has been used to improve growth in children with Noonan syndrome.Material and methods: 201 cases of patients referred with clinical suspicion of S. Noonan and other RASopathies was studied. Analysis of ...

Flash glucose monitoring is now included in the Portfolio of Services of the Public Health System of Andalusia in Spain. We enrolled 145 paediatric T1D diabetes patients into a prospective, interventional study of the impact of the FreeStyle Libre system on HbA1c levels in this population, as well as additional measures of glycemic health, such as Time in Range (TIR) and Time Below Range (TBR). Subjects were trained in use of the FreeStyle Libre system at the start of the stud...

Introduction: Studies about pubertal onset and the menarcheal age in girls with the antecedent of idiopathic premature adrenarche (IPA) are limited and with discordant results. For these reasons, we created a cohort of girls with the diagnosis of IPA. The objectives of our study were: a) to know the age of pubertal onset; b) to evaluate menarcheal age; c) to determine the growth rate in the first two years after the IPA diagnosis; d) to collect adult height da...

Background: Obesity represents one of the most challenging public health problems of the 21st century. According to the World Health Organization (WHO), there is a need to create reliable monitoring and behavioral systems, and to investigate their effectiveness in preventing childhood obesity.Objective: To evaluate a range of novel technologies for collecting photographs, information regarding physical activity and geogr...