ESPE Abstracts

Background: The term congenital hypothyroidism was introduced more than 60 years ago when Radwin et al. first described children with hypothyroid-associated features of severe intellectual disability and growth retardation. It is the most common endocrine congenital disorder and preventable cause of mental retardation. Newborn screening programs are an efficient tool for the secondary prevention of mental retardation associated with untreated congenital hypothyroidism...

Background: Diabetes insipidus is a heterogeneous clinical syndrome involving an alteration in water balance. When caused by a deficiency in the production of antidiuretic hormone (ADH) it’s called central diabetes insipidus (CDI). It is difficult to establish the cause of CDI in a good proportion of patients and thus classified as idiopathic in 10.4–55.2%, according to various studies. There are no previous studies in our population.Objective ...

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...

Background: The effects of carbohydrate-restricted (ketogenic) diets on metabolic parameters in children have been incompletely assessed.Objective and hypotheses: Effective treatment options for childhood obesity are limited and the risk of significant co-morbidities increase sharply with age, especially in paediatric population where growth is normally still occurring. The purpose of this study was to evaluate the feasibility, the efficacy and the safet...

Background and Aim: Metabolic Bone Disease of Prematurity(MBD) is a condition of reduced bone mineral content(BMC) compared to the expected for gestational age(GA). Preterm birth interrupts the physiological process of calcium(Ca) and phosphorus(P) deposition that occurs mostly in the 3rd-trimester of pregnancy, leading to an inadequate bone mineralization during intrauterine life(IUL). After birth, an insufficient intake of Ca and P carries on this alteration...

Introduction: A 12-year-old girl has been accepted in our emergency room for persistent abdominal pain associated with nausea, dysuria and difficulty walking. Abdominal pain is localized on the left side and is acute, stabbing, intermittent and non radiating. The menstrual cycle is normal, both in duration and intensity. Family history does not reveal a significant background. The girl is apyretic with normal vital parameters. The abdomen appears expanded and ...

Hashimoto encephalopathy is an autoimmune encephalopathy predominantly diagnosed in the adult population. In the pediatric population, the mean age is determined to be 14 years, with the majority of adolescent females. The diagnosis of Hashimoto encephalopathy is clinical and based on the highly variable neuropsychiatric conditions, often affecting more than one area of the central nervous system, the detection of antiperoxidase or antithyroglobulin antibodies in serum, and on...

Background: A significant number of long-term complications are reported in childhood acute lymphatic leukemia (ALL) survivors, and among them metabolic syndrome (MetS).Objective and hypotheses: To evaluate the prevalence of features of MetS. In addition, we evaluated the presence of steatohepatitis which is described in association with MetS in otherwise healthy subjects.Method: We assessed waist circumference, triglycerides level...

Background: Cleidocranial dysplasia (CCD) is a very rare dominantly inherited autosomal bone disorder mainly characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature, and other changes in skeletal patterning and growth. Heterozygous loss-of-function mutations cause the majority of the abnormalities in the run-related transcription factor 2 gene (RUNX2). This gene is located on chromosome 6p21 and i...

Background: The process of sexual differentiation is central for reproduction of almost all metazoan. Recently, we identified CBX2.1 a chromatin architecture regulator, as an essential transactivator for human male gonadal development. CBX2 has a second isoform CBX2.2. Since nothing is known about the role of CBX2.2 in human sex development, we took advantage of the p.C132R mutation in CBX2.2 in a 46,XY disorder of sex development (DSD) patient with complete female phenotype a...