ESPE Abstracts

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: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

Background: Thyroid hormone plays a key role in bone mineral homeostasis and significant alterations in its circulating levels have been associated with an impairment in skeletal growth during childhood. To date, the effects of subclinical hypothyroidism (SH) on bones have not been studied and the management of this condition is still debated.Aim: To evaluate bone mineral density (BMD) in children with mild, persistent S...

Background: The replacement therapy with levo-thyroxine (LT4) in congenital hypothyroidism (CH) aims to ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence.Objective and hypotheses: i) To evaluate LT4/kg per day requirement from diagnosis until 12 years of age; ii) to assess any differences in relation to the different etiology of CH as concern...

Objectives: Subclinical hypothyroidism (SH) is the most common thyroid abnormality in Down Syndrome (DS) children (25-60%); its etiology remains still not completely clarified. Aim of this prospective multicenter study was to evaluate prevalence and natural course of autoimmune and non-autoimmune SH in a large cohort of DS children and adolescents.Methods: The study population included 101 DS patients with SH (TSH 5-...

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 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 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...