ESPE Abstracts

Background: Children born SGA have been implicated to be at higher risk for subsequent obesity; however, the body composition, especially fat distribution, in SGS short stature (SGA-SS) patients and the effects of growth hormone (GH) therapy on body composition in SGA-SS have not been fully studied.Purpose: To unravel the effects of GH therapy on body fat mass, body fat distribution, muscle mass, and bone mineral density...

Background: The Prader and Quigley classifications (P/Q-C), used widely to evaluate external/internal genitalia in differences/disorders of sexual development (DSD) patients, are sometimes unsuitable for determining the stage/grade because they were originally designed to assess 46,XX 21-hydroxylase deficiency (21OHD) and 46,XY androgen receptor defects (ARD), respectively. The external masculinization score (EMS) is also used to assess masculinization of the ...

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...

Background: The aim was to determine prevalence and age at seroconversion of thyroid autoimmunity and relation to islet autoantibodies, gender and HLA-DQ genotypes in children followed from birth because of increased genetic risk for type 1 diabetes.Methods: In 1874 10-year-old children followed in the Diabetes Prediction in Skåne (DiPiS) study, blood samples were analysed for autoantibodies against thyroid peroxidase (TPOAb), thyroglobulin (TGAb), ...

Background: The MC4R pathway is the principal regulator of mammalian energy balance through its modulation of energy intake and energy expenditure. Variants in genes associated with the MC4R pathway can result in rare genetic diseases of obesity. Clinical data in patients with genetic defects in the MC4R pathway indicate that setmelanotide, an MC4R agonist, can effectively reduce weight and hunger in scientifically rationalized obese subpopulations in which MC...

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...

Background: Despite neonatal screening, children with congenital hypothyroidism (CH) may still display behavioural problems such as inattention, distractibility, hyperactivity and restlessness.Objective and hypotheses: The aim of present study was to evaluate attention and sluggish cognitive tempo (SCT) symptoms in 32 children with CH compared to 32 matched healthy controls.Method: The study population consisted of 32 CH children a...

Background: The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of energy balance. Variants in a number of genes within this pathway have well-established associations with severe obesity. However, the overall frequency of rare variants in these genes has not been assessed systematically in a clinically relevant population, and it is unknown whether variant frequency differs depending on the age of ascertainment. Genetic testing can impro...

Introduction: Obesity and vitamin D deficiency are global public health problems. There is evidence of a reciprocal link between vitamin D deficiency and obesity. Both conditions are risk factors for the development of chronic diseases, primarily insulin resistance and diabetes mellitus type 2, and contribute to a decrease in physical fitness (PF). The aim of this study was to determine the effectiveness of vitamin D supplementation on PF of obese children dur...

Background: Iron deficiency anemia (IDA) causes detrimental effects on physical growth which is attributed to poor appetite, altered endocrinologic profile and neurotransmitter metabolism consequent to iron deficiency.Objective and hypotheses: To investigate the iron status of preschool children with IDA and its association with the degree of growth retardation at presentation, and to detect the effect of iron supplementation on growth velocity (GV) over...