ESPE Abstracts

Childhood obesity became a global plague: 9% of Italian children (17% of USA children) is obese and 21% is overweight. Nowadays only a small number of obese children undergoes genetic analysis, usually when obesity is associated with dysmorphic features. Our purpose was to identify genomic rearrangement causing obesity: we analyzed the DNA of 52 children by array-CGH (platform CytoScan-HD, Affymetrix). Patients included in our study were 29 males (55,8%) and 23...

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Growth retardation is a common finding, due to recurrent severe infections and inflammatory complications. Bone marrow transplantation (BMT) can lead to stable remission, with overall pediatric survival rates > 90% after non-myeloablative conditioning transplants. As reported in previous studies, growth rates in CGD recovered following BMT.<strong...

Objectives: To demographic, socio-economic and social changes in the population of children who debuted in this century with DM type 1aPatients and Methods: Study patients with Type 1 Diabetes Mellitus from January 2000 to the present. Longitudinal study of global epidemiological, social, demographic and clinical variables and by five-year periods, focusing on the latte at Basque CountryRes...

Background: The fluid milieu along the female reproductive tract has a major role in a complex series of events that follow oocyte ovulation. These include oocyte transport in the fallopian tube, the transport and capacitation of sperm, fertilization, transport of the blastocyst and implantation of the embryo in the uterus. These processes are regulated by the activity of ion channels located on the surface of endometrial epithelia. In our previous studies we showed that epith...

Background and aim: Children with premature adrenarche (PA) have often tall stature, advanced bone maturation, and a tendency to be overweight. It has been speculated that PA may lead to unfavourable outcome, including obesity-related metabolic disturbances, but the data on long-term outcome of PA are insufficient. The aim of this work was to describe adult body composition in young females with a history of PA.Subjects and design: This prospective case-...

Background: Central hypothyroidism (CeH) is a rare thyroid hormone deficiency due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ, TRH receptor (TRHR) or IGSF1 genes while the combined pituitary hormone deficits (CPHDs) are the consequence of defects in embryonic pituitary transcription factors or in the prokineticin receptor 2 (PROKR2).Patients series: Here we report nine males (M) and 15 fema...

Background: Long-term monitoring of GH treatment in children is very important.Objective and hypotheses: To describe patterns of GH dosing in clinical practice in children with isolated GH deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD).Method: We analysed 7 years of GH treatment data from NordiNet® International Outcome Study (IOS) (NCT00960128), an observational study evaluating the long-term effectiveness...

Background: Early diagnosis of growth disorders and initiation of GH therapy at a younger age improves clinical outcomes.Aims and objectives: To analyse time trends in baseline parameters at GH treatment start (2006 – 2014) in short children with GHD, SGA and TS from Germany and Czech Republic enrolled in NordiNet® IOS (NCT00960128).Method: Baseline data (chronological age, height, weight, BMI, GH dose) from pa...

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...