ESPE Abstracts

Introduction: Heritable conditions causing aldosterone deficiency (hypoaldosteronism) or target-organ resistance (pseudohypoaldosteronism, PHA) can lead to life-threatening salt-wasting crises in early life. Prompt evaluation and correct interpretation of aldosterone and renin are crucial to guide differential diagnosis and further testing. Here we report on the similarities and differences of two neonates presenting with salt-wasting: Patient (P1) due to PHA ...

Keywords: pediatric obesity, metabolic syndrome, dyslipidemia, abdominal obesity, cardiovascular risk.Introduction: The prevalence of pediatric obesity is rising globally as well as in Romania and so are the complications of obesity. Dyslipidemia is one of the most frequent complications and is associated with cardiovascular risk even in children or teenagers. Evaluating the degree of obesity and the correlations between...

Background: Accumulating evidence has indicated that assisted reproductive technologies (ART) influence the metabolic physiology of the offspring, with a higher predisposition to metabolic disorders. Long-term metabolomic studies that separately consider males and females conceived with intra-cytoplasmic sperm injection (ICSI) vs naturally conceived (NC) children are needed. Previously, we had reported that ICSI-conceived prepubertal girls exhibit significant alterations in th...

Background: Oxidative stress and adipocytokines are associated with obesity.Objective and hypotheses: To investigate the association of adipocytokines with markers of pro- and anti-oxidation at baseline and their change and correlations during acute aerobic exercise in normal weight and obese pre- and early-pubertal boys.Method: Fifty healthy pre- and early-pubertal, normal weight and obese boys, underwent a baseline blood sampling...

Background: Specific measurement of low serum / plasma concentrations of 17β-estradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. However, there is still a gap in available reference intervals (RIs) for E2 in paediatrics. The study was partially funded by the German Ministry of Health, grant number 2519FSB503.Objective: First, we technically developed a highly sensit...

Introduction: Androgens are essential for the development of male sex characteristics. Testosterone (T) production from androstenedione (A) by the Hydroxysteroid 17-Beta Dehydrogenase 3 (HSD17B3) in gonadal Leydig cells triggers the differentiation of the Wolffian ducts into epididymis, vas deferens, seminal vesicles and the prostate. Shortly after, the virilisation of the external male genitalia starts through the conversion of T into dihydrotestosterone (DHT...

Introduction: Noonan syndrome-like disorder with loose anagen hair (NSLH1), also known as Mazzanti syndrome (OMIM#607721) is a RASopathy due to missense mutation (c.4A>G, p.Ser2Gly) in SHOCK2 gene. The NSHL1 is characterized by Noonan syndrome-like facial dysmorphisms, easily pluckable, slow growing, sparse and thin hair, growth retardation, variable neurocognitive impairment and cardiac anomalies.Aim: To present an a...

Background: The acid-labile subunit (ALS) is the crucial third player in the tertiary complex for its function of prolonging the half-life of the IGF1-IGFBP3 binary complexes. IGF1 and IGFBP3 are routinely determined during the diagnostic work-up for growth hormone deficiency (GHD). The aim of the study is to evaluate the relevance of serum ALS as an additional biomarker, alone or in combination with IGF1 and IGFBP3, in the diagnosis of GHD.<p class="abste...

The most common hyperthyroidism in children is Graves' disease. The other rare cause of hyperthyroidism is activating mutation in receptor TSHR in thyroid gland.We would like to introduce a case of familial hyperthyroidism with a novel mutation M453V in the TSHR in three membersActually 11-year-old boy is a patient in outpatient clinic for first days after birth. During gestation his mother was treated with thyreostatic drugs b...

Background: DICER1 is an endoribonuclease that acts post-transcriptionally by processing mRNA into siRNA and microRNA, thus leading to mRNA downregulation. DICER1 syndrome is usually caused by germline variants and is characterized by a variety of benign or malignant tumors: pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumor, cystic nephroma, pituitary blastoma and multinodular goitre. Patients with germline aberrations in the DICER1 gene may carry additional...