ESPE Abstracts

Background: Nephrotic syndrome is the most common cause of kidney disease in children, but its pathogenesis remains unclear. Nephrotic syndrome in patients with congenital adrenal hyperplasia has not been reported.Case presentation: A 38-month-old female child was admitted with eyelid edema. She was the first child (birth weight, 3.0 kg, full term) of non-consanguineous parents of Chinese Han ethnicit. She had been diagnosed with congenital adrenal hyper...

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

Central hypothyroidism (CeH) is characterized by thyroid hormone deficiency due to impairment of pituitary TSH or hypothalamic TRH biosynthesis. CeH is often seen as a part of multiple pituitary hormone deficiencies, but it can also be seen as isolated. Diagnosis may be challenging. To date, some variants that can cause isolated CeH have been identified; although in a number of patients the cause has not been clarified. Recently, variants of the insulin receptor substrate 4 (<...

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

Introduction: The incorporation of the interstitial glucose monitoring system, in the offer of services in the Andalusian Public Health System (APHS), means an opportunity for the implementation of a model of integration, and follow-up of glucose data, and the evaluation of their impact in health results.Purpose (Aim): The design and implantation of a model that allows the identification, registration of clinical data, i...

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...

Introduction: In the last 10 years, blue light (BL) sources such as tablets and phones has increased in every age group. Especially due to the Covid-19 pandemic, screen exposure has also increased in childhood. However, the effects of BL exposure in the puberty process aren’t clear. We aimed to examine the effect of BL exposure and exposure time on pubertyMethods: Immature eighteen 21-day-old female Sprague Dawley ...

Background: GH deficiency may not persist into adulthood. Thus, it is recommended to reassess it after reaching adult height. However, according to stimulation tests, they have poor specificity, reproducibility, and poor standardization of hormonal measurement, and they are expensive and involve risks.Objective and hypotheses: Establish if IGF1 would be a better reassessing method than stimulation tests in adult GH defic...

Background: Mesoderm-specific transcript (MEST) is an epoxide α/β-hydrolase protein with catalytic activity that is determinant for the development of adipocytes. The MEST gene is an imprinted gene transcribed only from the paternal allele. Although the mechanism by which MEST overexpression augments fat accumulation and storage in adipocytes has not been fully elucidated, frequent subcellular contacts between MEST-positive endoplasmic reticulum, mi...

Background: Adrenocortical Tumors (ACT) is a rare endocrine malignancy with heterogeneous presentation.Aim: To evaluate the clinical, biochemical and pathologic characteristics of pediatric ACT in a single tertiary center.Subjects and methods: Review of 28 medical records with childhood ACT (chronological age (CA) <18 years (y) treated between 1987 and 2017. Clinical, biochemical, and histological features (Wieneke index), stag...