ESPE Abstracts

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a s...

Bone fragility is a more typical condition of old age, linked to physiological aging. In pediatric age, on the contrary, it represents a rare problem, but more often has an underlying primary cause. This condition manifests itself in most cases with recurrent or abnormal fractures and bone deformities, with a limitation of mobility, bone pain and consequent reduction in the quality of life of the child. The great difficulty for the clinician consists in reaching a correct diag...

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,...

Objective: There is no agreement about which index of adiposity and/or body composition is the most accurate in identifying the metabolic syndrome (METS). The aim of our study was to compare the accuracy of the different indexes in order to recognize the most reliable.Study Design: We evaluated 1332 obese children and adolescents (778 females and 554 males), aged 14.4 ± 1.8 yrs., Body Mass Index (BMI) standard devia...

Objective: Acute adrenal crisis is one of the main concerns in children with classic congenital adrenal hyperplasia (CAH). The aim of this study was to evaluate hypoglycemic and salt-wasting episodes in children with an established diagnosis of classic 21-hydroxylase deficiency (21-OHD) after start of treatment.Methods: A retrospective observational study was conducted for 85 patients with classic CAH (68 salt-wasting and 17 simple virilizing), aged 1 to...

Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insufficiency due to mutations in NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually presents in the first two months of life, but sometimes can appear later in childhood. Hypogonadotropic Hypogonadism is often associated later in life and all patients develop azoospermia. We describe an unusual onset of AHC started with ...

Childhood obesity is the consequence of a complex interaction among several factors: environment, genetics, endocrine disorders, medications and other conditions. Genetic factors are described to be causal factors in up to 30–50% of overweight conditions. Although polygenetic obesity is by far the most commonly observed, several obesity related syndromes associated with single gene defects have been identified.Case presentation: A three year old gir...

Introduction: Term newborns Small for Gestational Age (SGA) have an increased risk for minor neurological impairment at pre- and school age. The general movements (GMs) assessment, in particular at Fidgety (F+) age, has been increasingly used to predict neurological dysfunctions. Aim of our study was to evaluate, in a population of term newborn SGA (gestational age >37 weeks) the growth recovery, the presence of F+ at 3 months of age, and the neurological outcome at 2 year...

Background: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder involving a predisposition to tumor development, etiologically connected with genetic/epigenetic dysregulation. The main features of BWS include omphalocele, macroglossia and macrosomia; however there is significant clinical heterogeneity. SHOX mutation is a frequent cause of short stature with high penetrance, but extremely variable clinical expression. The mean adult height is -2.2 SDS. The presence of m...

Poland’s syndrome is characterised by unilateral absence or hypoplasia of the pectoralis muscle, associated with the ipsilateral malformation of the hand. The syndrome is usually sporadic and occurs in about 1:32.000 live births. Poland’s syndrome has been described associated with other abnormalities, including renal aplasia or hypoplasia, hemivertebra, Klippel-Feil syndrome and Moebius’ syndrome. In literature are reported six cases of Moebius syndrome associa...