ESPE Abstracts

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

Background: More than two thirds of teenagers with childhood-onset GH deficiency (CO-GHD) documented normal GH response when retested at final height.Objective and hypotheses: To identify potential predictors for persistent GHD after reaching final height under rhGH with a particular accent on children with isolated GHD (IGHD).Method: Prospective study: reevaluation CO-GHD in the transition period; cohort of 27 CO-GHD patient who r...

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...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.Objective and hypotheses: The primary objective of this study is to identify patients with MODY an...

Background: Mc Cune Albright (MAS), is a rare genetic disease clinically defined by bone fibrous dysplasia (BFD), café au lait skin spots and at least one hyperfunction endocrinopathy. Growth Hormone (GH) excess has been described in 20% of patients usually accompanied by hyperprolactinemia (80%). As reported in literature GH hypersecretion is allways associated with craniofacial BFD, macrocephaly and is also accompanied by higher risk of systemic...

Background: Most studies examined immune/inflammatory parameters in type 1 diabetes mellitus (T1D) showing discrepant results and not yield definitive conclusions. A study carried out by our group in 2013 compared meta-immunologic profiles of three groups: high-risk children, newly diagnosed children affected by T1D and controls.Objective and hypotheses: To compare metabolic profile in three groups: children affected by T1D and an additional autoimmune d...

Background: The correlation between obesity and depression is well established. Tryptophan (Trp) is an essential amino acid that acts as substrate for serotonin and melatonin biosynthesis, both know to play a role in satiety, anxiety, and depression. Furthermore, low plasma Trp levels have been associated with obesity.Objective: To investigate the effects of Trp supplementation as a conjunctive therapy to conventional life-style intervention on weight lo...

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...

Central diabetes insipidus (CDI) at neonatal age may occur in the setting of intracranial abnormalities that affect the hypothalamus-pituitary system. These conditions are characterized by defective production, transport or secretion of antidiuretic hormone (ADH). This results in inappropriately low ADH levels in the setting of increased plasma osmolality. We present the case of an infant born by C-section at 38 weeks of gestation, with bilateral cheilognatopalatoschisis, naso...

Introduction: Since the 1980s, long-acting gonadotropin-releasing hormone analogues (GnRHa) have been the standard treatment for central precocious puberty (CPP).Aims: To evaluate the short-term response (at 6 and 12 months) of treatment with GnRHa in female children diagnosed with CPP, regarding growth, bone maturation (Greulich and Pyle method), predicted adult height (PAH) and pubertal development (Tanner stages)....