ESPE Abstracts

Background: Genomic imprinting causes genes to be expressed or repressed depending on their parental origin. The 1-Mb DLK1-DIO3 imprinted domain is located on human chromosome 14. Gene expression along this cluster is regulated by an intergenic differentially methylated imprinting control region (‘IG-DMR’). In mice, altered gene dosage within this cluster is associated with alterations in embryonic and placental growth.Objective and hy...

Background: Maternal obesity can have long-term consequences for the offspring’s health, including increased risk of type-2 diabetes and cardiovascular disease. The C19MC imprinted locus on chromosome 19q13.4 comprises a cluster of 46 microRNAs, which are usually expressed only in the placenta and from the paternal allele exclusively. Besides its role favouring trophoblast migration, the C19MC locus is deregulated in several human cancers. It is unknown ...

Background: SGA cohort study in analytical and metabolic variables at 3 and 12 months of age with somatométrica situation.Material and methods: Live births in singleton pregnancies in our hospital during 2012–2014, PEG were studied according EG and weight/height (Spanish Tablas 2008). Tours are conducted at 0, 3, 6, 9, 12 months, with measurements of weight, height and perimeter. Blood samples are obtained at least fasting discussed 4h and exce...

Background: Cohort SGA in North of Spain – EPIPEG.Objective and hypotheses: Establish a SGA cohort for monitoring, assessment catch-up, and analysis of middle-environmental and social factors.Method: We study live births in singleton pregnancies in our hospital during 2012–2014, and are classified according age gestation (EG) and weight/height (Spanish growth 2008). Visits were made at 0, 3, 6, 9, 12 months, with measurem...

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: Magnetic resonance imaging (MRI) of the hypothalamic-pituitary area is extremely useful in the investigation of patients with central diabetes insipidus (CDI) due to infiltrative processes.Objective: We aimed to associate pituitary stalk thickness with the etiology of CDI and hormone deficiencies.Method: A retrospective single-center study of 15 patients (four boys and 11 girls) with CDI was performed and clinical-epide...

Of the 67 included DSD patients, 33% were HSCs. 68% women and 32% men, with a total concordance between legal sex, current gender and chromosomal sex. Median age: 10.5 years, IQR 8-14. The most frequent clinical form was non-classical (NC) 45.5%, followed by classical with saline loss (CPS) 41%. The distribution of each clinical form according to the karyotype is significant (P = 0.013), the most frequent with XY karyotype is CPS and in NC forms all cases are XX. Med...

Introduction: Both the innate and adaptive immune responses are deregulated in individuals with obesity and are a key driver of its associated metabolic alterations. Although the anti-inflammatory growth differentiation factor 15 (GDF-15) is a candidate protein against obesity, its mechanisms regulating the immune responses are not fully understood.Methods: We examined whether serum GDF-15 was related to serum levels of ...

Introduction: It is known that excessive gestational weight gain can cause an adverse intrauterine environment and increase the risk of cardio-metabolic diseases in the offspring. Epigenetics could be one of the mechanisms involved in this regulation.Objective: We aimed to study the DNA methylation profile of umbilical cord tissue that is associated with gestational weight gain (GWG), and its relationship with cardio-met...

Background and Aims: Gestational obesity can cause metabolic programming in the offspring. Epigenetic modifications of DNA have been suggested as potential mechanisms underlying this programming. FRAT-1 is a gene involved in the WNT signaling pathway, which is an important regulator of adipose tissue development. The objective of this work was to study the methylation status of FRAT-1 in placentas of women with either normal weight or gestati...