ESPE Abstracts

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

Prediction of poor response to growth hormone (GH) therapy in children with short stature is an important issue for personalized approach to treatment. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset (H0SDS) and pre-treatment IGF-I and IGFBP-3 concentrations but not the results of GH stimulation tests; pre-treatment growth...

Background: Borderline precocious and normal-onset puberty can show slow or fast course. The fast development of pubertal signs can be resulted in decrease in final height (FH) via accelerated growth and bone maturation.Objective and hypotheses: To study the effectiveness of GnRHa in improving FH in girls with advanced bone age (BA) and decreased predicted height (PH) in borderline early or normal physiological puberty.Method: 135 ...

Key words: early puberty, mood change, GnRH analogueIntroduction-Aim: In cases with early puberty, neuroendocrine, physical, and psychological changes are considered to result in several mood disorders. The aim of this research was to assess the mental problems of pubertal girls with rapidly progressive puberty (RPP) with menarche before the 10 years of age. To the best of our knowledge, there is no similar prospective c...

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

Background: Diagnosis of GH deficiency (GHD) is a complicated issue especially in isolated GH deficiency. Auxological evaluation, IGFI, IGFBP3 levels and GH response to provocative testing are all considered in the diagnosis. However, cut-off values for GH levels at stimulation tests are controversial. We aimed to evaluate the response to rhGH treatment in patients with different GH peak levels in stimulation test.Objective: We aimed to evaluate the resp...

Background: Some neuropeptides and hormones, for instance dopamine, leptin and insulin can affect the food consumption, eating behavior and can lead to obesity. Research goal was to discover the gender differences, associations and joint influence on body weight of blood dopamine (DA), leptin (LP) and insulin (Ins) concentrations in obese children.Material and methods: We discovered cross-sectional retrospective data of ...

In a retrospective study (1), we found that a GH<6.5 μg/L, IGF-I-WHO87/518 <30 μg/L and IGFBP-3<0.8 μg/mL confirmed GHD diagnosis with high diagnostic accuracy in neonates with clinical suspicion of GHD. GH and insulin negatively regulate IGFBP-2, and it was proposed to reflect GH status in the diagnostic work-out of GHD in childhood and adults. The accuracy of IGFBP-2 has not been set for neonates.Objective: To prospectively v...

IGF2, a major actor which stimulates feta growth, is located within the imprinted 11p15 region, and 11p paternal duplications are usually associated with Beckwith Wiedemann syndrome, a rare condition usually associated with overgrowth. The IGF type 1 receptor binds both IGF-I and IGF-II to promotes cell proliferation and growth, and the IGF1R gene is located at chromosome 15q. Patients with deletions or mutations of IGF1R usually present with intraut...