ESPE Abstracts

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

Background: In humans, the GHN gene transcription is under the control of a Locus Control Region (LCR) enhancer, HSI, located 14.5 kb 5′ to the hGHN promoter. POU1F1, a pituitary-specific transcription factor, plays an essential role in the specification of the somatotroph, lactotroph and thyrotroph lineages and the activation of GHN, PRL and TSH gene transcription. All POU1F1 mutations so far reported have been linke...

Background: During the 1st months of postnatal life serum luteinizing hormone (LH) levels in girls are lower than in boys. The mechanism of this sex difference is not known. It has been proposed that foetal or perinatal androgenic steroids have an effect on the control of LH secretion.Objective and hypotheses: To study the possible influence of high levels of androgens on serum gonadotropins during the 1st months of life in a cohort of nine 46,XX testicu...

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: 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: The presence of a thyroid nodule (TN) is a rare clinical condition during childhood and adolescence. In children, classically was considered malignant and total thyroidectomy was recommended whenever a TN was detected or in the case of cold nodules. There are not long time series in children, but recent clinical guidelines recommend an initial management as in adults.Objective and hypotheses: Review TN in children in our area.<p class="ab...

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 ...

Background: In children, papillary thyroid cancer (PTC) is generally sporadic and may, less frequently, be part of an undiagnosed hereditary tumor predisposition syndrome (HTPS). Somatic molecular testing is useful to understand tumor etiology and behavior, predict prognosis, and possibly guide development of novel treatment strategies. RET/PTC fusions were found to be associated with an increased risk of invasive disease. The aims of our study were to analyze...