ESPE Abstracts

Introduction: Prader-Willi syndrome (PWS) is a rare paternally inherited genetic disorder caused by alteration of chromosome 15q11-q13. Associated hypothalamic impairment leads to hyperphagia which therefore increases the risk for morbid obesity, dyslipidaemia, insulin resistance and arterial hypertension and in the end increases mortality. Patients with PWS benefit of recombinant growth hormone (rGH) treatment despite the GH reservoir to improve their impaire...

Objective: Central precocious puberty (CPP) is a common condition in pediatric endocrinology practice. Gonadotropin-releasing hormone agonists (GnRHa) treatment is safe, but the real effect on final height and the ideal timing for treatment remains controversial. The purpose of the authors was to evaluate a nationwide representative group of CPP Portuguese girls treated with GnRHa, assess the effectiveness of treatment and the growth outcome before and after 8...

Introduction: Premature adrenarche (PA) is usually define as the appearance of clinical signs of androgen action before the age of 8 years in girls and 9 years in boys, associated the serum DHEAS above 40µg/dl.Aims: 1) To characterize a population of prepubertal children with PA regarding birth weight, anthropometry, growth velocity, height difference, bone age, IGF1 and DHEAS. 2) To compare IgF1, bone age, growth v...

Introduction: There seems to be an undoubting, but still puzzling, relationship between obesity and premature adrenarche (PA).Aim: To characterize a population of prepubertal girls with PA and to compare girls with a normal body mass index (BMI) with girls who are overweight or obese, in what regards gestational age and birth weight, age at the referral, clinical signs, anthropometry, bone age and hormone profile.<p ...

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 ...

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: 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: Basal 17OHP levels to indicate an ACTH-stimulation test and post-ACTH 17OHP cut-off levels diagnosing NC-CAH vary among different guidelines.Objective: To establish the performance of basal and post-ACTH 17OHP concentrations for the NC-CAH diagnosis in children with precocious pubarche (PP).Methods: Clinical, biochemical, and molecular analysis from 202 PP patients subm...