ESPE Abstracts

Background: MKNR3 is a paternally expressed gene whose loss-of-function mutations cause Central precocious puberty (CPP). The precise molecular disruption produced by MKRN3 mutations remains unclear albeit protein structure suggests MKRN3 could play a role in proteasome ubiquitination. Circulating MKRN3 levels has been negatively associated to LH peak, estradiol and kisspeptin in idiopathic CPP and healthy controls. However, no literature data is available for...

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,...

Background: GAIA is a health service of Meyer Children Hospital composed of a multidisciplinary team specialized in the management of children victims of child abuse. Sexual abuse occurs when a child is engaged in sexual activities that cannot comprehend, for which the child is developmentally unprepared and cannot give consent, and/or that violate the law or social taboos of society. The sexual activities may include all forms of oral-genital, genital, or anal contact by or t...

Background: Gonadal dysgenesis may be rarely associated with precocious puberty (PP) and development of gonadoblastoma. In these patients cases of peripheral PP have been reported. On the contrary, a central PP has been very rarely described.Objective and hypotheses: To describe a female with central PP associated with a bilateral gonadoblastoma.Results: A 8 year and 5 month old phenotypically female child, presenting suspected PP ...

Background: Empty sella refers to the radiographic appearance of an enlarged or deformed sella turcica and it is considered a rare occurrence in childhood. Many reports have suggested that it is associated with hypothalamic-pituitary dysfunction, with a high prevalence of growth hormone deficiency, as well as multiple pituitary hormone deficiency, idiopathic delayed puberty and isolated diabetes insipidus.Objective and hypotheses: We describe the case of...

Background: Transverse Myelitis (TM) is an auto-immune syndrome with neural injury to the spinal cord. The TM may be first clinical manifestation of Multiple Sclerosis (MS). It is known that Turner’s Syndrome (TS) is associated to the presence of autoimmune diseases.Case Report: A 15-year old female, began with manifestations of loss of strength on the lower limbs evolving rapidly with sensorial loss, tetraparesis and hemodynamic instability, requir...

Background: Prader–Willi syndrome (PWS) is a relatively common multisystem disorder with a prevalence estimated in several studies to be in a range of one in 10 000–30 000 individuals.Objective and hypotheses: For the first time to our knowledge, we describe the case of a couple of twin, naturally conceived, monochorionic diamniotic, both affected by PWS.Method: The gravida 3 para 1 mother was 43, and the father 40, at th...

Background: Numerous studies have shown that GH, in addition to promoting linear growth, exerts a key role in many metabolic processes. However, there are only few studies aiming at evaluating the metabolic panel of children with GH deficiency (GHD). The aims of the study were: to verify the presence of metabolic alterations in GHD children in comparison with age-matched controls and to check the possible effects of 2 year GH therapy on the metabolic parameters in GHD.<p c...

Background: ROHHADNET syndrome affects children with normal development until 2–4 years. A paraneoplastic/autoimmune etiology has been suggested because of the association with neural crest tumours.Objective and hypotheses: Aim of this study was to describe the phenotype of ROHHADNET patients, and to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not...

Background: Early predictors of cardiovascular risk using anthropometric and laboratory variables available in the general practice in obese children are poorly identified.Objective and hypotheses: To identify best predictors of early cardiovascular risk in obese children between anthropometric and laboratory parameters.Method: Cardiovascular risk was determined by measuring intima-media thickness of the right common carotid artery...