ESPE Abstracts

Background: Hashimoto’s thyroiditis (HT) in childhood may present with either euthyroidism (52.1% of cases), or primary overt hypothyroidism (22.2%), subclinical hypothyroidism (19.2%), overt hyperthyroidism (3.5%), or subclinical hyperthyroidism (3%). In a large series of 608 children and adolescents with presenting HT, we found in no cases a biochemical picture with low free thyroxine (FT4) and normal or low-normal TSH serum levels, i.e. a thyroid pattern tha...

Background: Mutations in the 17β-hydroxysteroid dehydrogenase (17βHSD 3) result in 46,XY disorder of sex development (DSD). Biochemical hallmark of 17βHSD 3 deficiency is a Testosterone/Androstenedione ratio (T/A ratio) <0.8. 17βHSD 3 mutations have been associated with a wide spectrum of phenotypes, ranging from under-virilized male to a female appearance of genitalia at birth. Indeed, 17βHSD 3 deficiency in prepubertal patients is often clinicall...

Background: ‘Dead in Bed syndrome’ mechanism in childhood diabetes remains unknown. The hypothesis is that a nocturnal hypoglycaemia could lead to arrhythmias related to abnormal ventricular repolarisation.Objective and hypotheses: To look for a relationship between spontaneous fluctuations of nocturnal glycaemia, ventricular repolarization and heart rate variability (HRV) in prepubertal children with type 1 diabetes.Meth...

Background: The Dutch HYPOthalamic and PITuitary gene (HYPOPIT) study investigates the genetic and non-genetic causes of isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). Former projects within the HYPOPIT study showed that only a small minority of the Dutch IGHD and CPHD cases could be explained by mutations in GH1, GHRHR, HMGA2 and CDK6 in IGHD patients and PROP1, HESX1, POU1F1, LHX3</...

Background: Inhalation corticosteroids (ICS) as treatment for asthma can interfere with the hypothalamic-pituitary-adrenal axis and could lead to hypocortisolism. The frequency of this systemic side effect and the correlation to ICS usage is still unclear. Given that the cortisol excretion is pulsatile and determined by acute stress and circadian rhythms, the usefulness of tests based on momentary measures, such as saliva or serum are therefore limited. Cortisol levels measure...

Background: Genetic and epigenetic alterations at the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP), a heterogeneous disease characterized by multiple hormone resistances and AHO signs (short stature, obesity, round face, brachydactyly, subcutaneous ossifications and mental retardation). A clinical overlap among molecular subtypes of the disease (Ia, Ib, Ic and II) makes the current classification inadequate; furthermor...

Background: Prenatal growth restraint associates with risk for later diabetes particularly if such restraint is followed by postnatal formula-feeding (FOF) rather than breast-feeding (BRF). Circulating incretins can influence the neonatal programming of hypothalamic setpoints for appetite and energy expenditure, and are thus candidate mediators of the long-term effects exerted by early nutrition.Objective, hypotheses and method: We have tested this conce...

Background: In adults, bariatric surgery has gradually emerged as a ‘metabolic’ surgery, able to rapidly improve metabolic disturbances linked to severe obesity. Even if type 2 diabetes is rare in european obese adolescents, alterations in insulin sensitivity are present in almost all.Objective and hypotheses: To evaluate the modification of insulin resistance (IR) and insulin sensitivity (IS) in severe obese adolescents who underwent bariatric...

Background: Infants born small-for-gestational age (SGA) who develop postnatal weight catch-up are at risk for insulin resistance, central adiposity and cardiovascular disease in later life, even in the absence of overweight.Objective and hypotheses: In young (age 3–6 years) non-obese SGA children, we assessed arterial health by intima-media thickness (IMT) and abdominal fat distribution (subcutaneous, visceral, pre-peritoneal and hepatic components...

Background: Response to GH treatment has been associated with single nucleotide polymorphisms (SNPs) within the promoter region of growth-related genes including GRB10 (rs1024531 (A/G, allele A increased response)), IGFBP3 (rs3110697 (G/A, G increased response)), CYP19A1 (rs10459592 (T/C, T increased response)) and SOS1 (rs2888586 (G/C, C increased response)). SOS1 is a positive regulator of GH signalling (MAPK pathway); the aromatase CYP19A1 promotes oestrogen synthesis to im...