ESPE Abstracts

Aim: To determine the sensitivity, specificity of basal LH measurement compared to the GnRH test in patients with Central precocious puberty (CPP) and determine the cut off point for basal LH to diagnose CPP.Methods: 680 female patients were referred for presumptive diagnosis of central precocious puberty in the city of Bogota. All patients went through a GnRH test, using a Roche immunoassay for Luteinizing hormone (LH) and follicle stimulating hormone (...

Steroidogenic factor-1 (SF1), encoded by plays a central role in sex development, steroidogenesis, and reproduction in both males and females. NR5A1 mutations have been described in a diverse spectrum of disorders of sex development (DSD). We report on a case of XY Partial Gonadal Dysgenesis with paternal inheritance of a NR5A1 variant. A 17-year-old girl was referred to us due to primary amenorrhea and absence of secondary female sex characteristics. She was...

Background: Atherosclerosis begins in childhood and progresses silently. Triglycerides/HDL ratio(TG/HDL) is a risk factor for cardiovascular diseases.Objective and hypotheses: To investigate TG/HDL as possible predictive factor for metabolic disorders in children.Method: Descriptive correlation, with 110 children (6–12 years old) in Sparta, Greece. Anthropometric and biochemical analyzes were performed.R...

Background: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. We have previously reported three novel variants in the IGF1R gene: de novo p.Arg1256Ser, de novo p.Asn359Tyr and p.Tyr865Cys (ENDO 2013, OR20-2).Aim: To characterize the functional effects of the novel IGF1R gene allelic variants.Methods: In ...

Background: Congenital hyperinsulinism (CH) is the most common cause of persistent hypoglycemia in neonatal period. The inadequate secretion of insulin leads to high morbidity and mortality in those newborns. Despite the recent progress in the diagnosis and management of CH, until recently, the situation in Brazil has been that of early 1990’s. The epidemiology is unknown and state-of-the art management has not been available.Objective and hypothese...

Background: GH transduction defect (GHTD) is characterised by severe short stature and impaired STAT3 phosphorylation, which is overcome by simultaneous induction of GHTD fibroblasts with 200 ng/ml GH and short interference mRNA CIS (GH200/siRNA) or with 1 000 ng/ml GH (GH1000) and is clinically expressed with ‘catch-up’ growth after rhGH treatment.Objective and hypotheses: The involvement of epidermal growth factor receptor (EGFR) in the succe...

Background: epidermal growth factor (EGF) stimulates cell growth and differentiation through its receptor EGFR. Cross-talking between the GH and EGF signaling pathways is important for normal cellular development. GH transduction defect (GHTD), a clinical disorder characterized by impaired STAT3 phosphorylation due to excessive GHR degradation, is caused by over-expression of the E3 ubiquitin ligase, CIS.Induction of GHTD fibroblasts with 200 ng/ml hGH (GH200) and silencing mR...

Background: Type 1 diabetes mellitus (DM1), a chronic metabolic disorder of autoimmune origin, has been associated with oxidative stress (OS), which plays a central role in the onset, progression and long-term complications of DM1. The markers of OS lipid peroxidation products, lipid hydroperoxides (LOOH), and also malondialdehyde (MDA) and thiobarbituric reactive substances (TBARS) that oxidatively modify proteins (Pr) (i.e., PrMDA and PrTBARS, respectively),...

Background and Aims: Optic pathway gliomas (OPGs) represent 2-5% of brain tumors in children. OPGs are classified by the anatomic location and whether they are associated with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to tumor location and treatment modalities, including visual dysfunction, neurologic deficits, and endocrine dysfunction. The aim of our study was to assess the prevalence of endocrine dysfunctions in patients with ...

Hypopituitarism refers to the insufficient secretion of one or more pituitary hormones. If default is present at the time of birth is called congenital hypopituitarism (CH). Causes of this are perinatal pathology and genetic alterations. The clinical presentation is heterogeneous. The diagnosis is made by clinical suspicion supported by hormonal determinations, brain imaging test (MRI) searching of structural defects and genetic study. The development of the pituitary gland is...