ESPE Abstracts

Healthcare professionals (HCPs) receive adherence information on patient Saizen® recombinant human growth hormone (r-hGH) treatment via data wirelessly transferred from the easypodTM electromechanical delivery device to the web-based eHealth platform easypodTM connect. In order to empower patients and caregivers with this information and to provide educational tools, the growlinkTM mobile app is being ...

GLI2 is a downstream transcription factor in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. Heterozygous GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD).Objective: Study of genetic etiology of the hypopituitarism and identification of the genetic alteration in GLI2 gene.Methodology: Molecular study: Search for varia...

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 (...

Background: Hypercortisolism due to PPNAD may be cyclical, atypical and may develop suddenly or progressively.Objective and Hypotheses: The performance of salivary cortisol (SF) in this rare cause of Cushing’s syndrome (CS) is lacking.Method: Ten patients (nine F/one M) with PPNAD (two sporadic; eight Carney complex) were evaluated. Among these, six had CS family history, while in two the diagnosis was confirmed by germline PR...

Background: Rasopathies are a heterogeneous group of diseases that share phenotypic characteristics such as facial dysmorphism, congenital heart disease and short stature.Objective and hypotheses: Evaluation of growth and study of the GH–IGF1 axis. Molecular Study of the PTPN11, SOS1, RAF, KRAS, NRAS, MAP2K1 and MAP2K2 genes. Evaluation of growth and study of the GH–IGF1 axis.Method: Descriptive retrospective study in pat...

Background: Neurogenic diabetes insipidus (NDI) is extremely rare in the neonatal period. In most cases, it’s secondary to CNS injury. The clinical presentation in this group (particularly in preterm) is unspecific and a high degree of suspicion for the diagnosis is necessary.Objective and hypotheses: Diagnose NDI in a neonate with sodium and diuresis instability.Method: We present a case report.Results:...

Introduction: The circadian rhythmicity of the hypothalamic–pituitary–adrenal (HPA) axis depends on the synchronization of the clock molecular systems in the suprachiasmatic nucleus and in the adrenals. When and how this process occurs in the adrenal is unknown.Objective: To assess the ontogeny of daily variation of the expression of the adrenal clock genes (Clock, Arntl, Per1, Per2, Per3, Cry1, Cry2, Rora, and Nr1d1), steroid...

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Growth retardation is a common finding, due to recurrent severe infections and inflammatory complications. Bone marrow transplantation (BMT) can lead to stable remission, with overall pediatric survival rates > 90% after non-myeloablative conditioning transplants. As reported in previous studies, growth rates in CGD recovered following BMT.<strong...

Introduction: Neonatal diabetes mellitus (NDM) is a rare form of insulin-dependent monogenic diabetes mellitus (1/400,000 live births) diagnosed in the first six months of life. It can be either transient or permanent, with abnormalities in the parental chromosome 6q24 and with mutations in genes related to the ATP-sensitive potassium pump in the β-cell membrane respectively.Aim: We describe a male infant, 2.5 months old, diagnosed with NDM and panc...

Introduction: Obesity in childhood and adolescence is a major problem with many adverse consequences in public health due to its increasing prevalence, as well as the burden on the health system. Recently, the need to find effective intervention and prevention strategies for the management of obesity has led to the development of e-health technologies, which record behavioral data objectively and correlate them with factors that increase body mass index (BMI)....