ESPE Abstracts

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...

Aims: The aim of the study is to evaluate body composition and microcirculation in children and adolescents with growth hormone deficiency (GHD) and the effects of replacement therapy. These parameters were also evaluated in children and adolescents with suspected GH deficiency but in whom drug stimulus testing was later found to be normal.Materials and Methods: We examined 44 patients (25 males and 19 females) aged betw...

Introduction: Previous reports support the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects. In this context, transition years represent an important phase of growth process when somatic development reaches its completion. In the general population, GH deficiency (GHD) during the transition phase is associated with deterioration of body composition, metabolic alterations and reduced bone mineral density. PWS subjects ...

Background and aim: Fibroblast growth factor 21 (FGF21) is produced and expressed in several tissues but mainly in the liver and adipose tissue, where it has endocrine and paracrine functions. Several experimental studies reported that FGF21 decreases lipogenesis, triggers beta oxidation of fatty acids, reduces hepatic ER stress and VLDL release and reduces fasting and postprandial triacylglycerols (TG). Consistently, several phase 2 trials with FGF21-agonists...

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women and is characterised by chronic low-grade inflammation, ovulatory dysfunction, hyperandrogenism, and often by insulin-resistance. However, little is really known on insulin/IGF signalling in PCOS ovaries. This study aim ed to investigate the amount of Insulin (IR) and IGF-I receptor type I (IGF-IR1) and their intracellular mediators in granulosa cells from PCOS women with r...

Background: PCOS is characterised by chronic low-grade inflammation, ovulatory dysfunction, hyperandrogenism, and insulin-resistance. The IGFsystem includes IGF-I, -II and seven IGFBPs, which regulate IGFbioavailability. Chronic inflammation modifies the IGF system that regulates ovarian function and glucose metabolism. HMGB1 is related with both inflammation and insulin sensitivity;we previously described increased HMGB1 FF in PCOS. This study aim ed to inves...

Aim: Few data are currently available on the reliability of the different anthropometric, instrumental and biochemical indexes in recognizing the presence of the metabolic syndrome (MetS) in severe childhood obesity. The objective of our study was to find out a simple and accurate index to use in deciding whether to initiate a search for MetS in this at-risk population.Patients and Methods: A retrospective study based on...

Introduction: Laron Syndrome (LS) or primary growth hormone (GH) insensitivity is an autosomal recessive disorder due to variants in the GH-receptor (GHR) gene or to post-receptor defects. LS prevalence is estimated 1-9/1000000. We report a case of LS with a missense variant in the GHR gene not previously described.Case: female, Turkish, was referred to our clinic for short stature. Born at term, birth ...

Introduction: McCune Albright Syndrome (MAS) is a rare disorder caused by somatic activating mutations of the GNAS gene, characterized by monostotic/polyostotic fibrous dysplasia, café au lait skin pigmentation and hyperfunctioning endocrinopathies. We report a case of MAS presenting with mild phenotypic characteristics and central precocious puberty (CPP).Case: Indian female was referred to our clinic fo...

Context: Mitochondrial encefalo-cardio-myopathy due to TMEM70 mutation is a very rare disease with frequent neonatal onset accompanied by laptic acidosis, hyperammonemia and 3-methylglutaconic aciduria.Case presentation: Patient DT presented at 7.5 years due to short stature (height -3.11 SDS, MPH -1.09 SDS; weight -4.41 SDS), in the context of a complex syndromic picture characterized by intrauterine growth retardation,...