ESPE Abstracts

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...

Aim: To examine offspring of patients with simple obesity. To ascertain, if there are some disturbances in the carbohydrate or lipid metabolism or unknown type 2 diabetes in these subjects.Method and subjects: Examined were 132 families, 108 families with obesity, and 24 families without obesity, the control group. 14 additional were excluded because of ascertained at the time of examination unknown type 2 diabetes in the parents. In all of the offspring...

Background: The rise of TG in patients with ketoacidosis is connected with the impairment of lipoprotein lipase activity – the enzyme strictly dependent on insulin.Objective and hypotheses: The authors present a case report of 2.5 years old boy in whom diabetes manifestation was connected with severe metabolic disorders: ketoacidosis and extreme hyperlipidaemia.Method: The child without any significant medical history, admitte...

Background: Premature adrenarche (PA),characterized by high concentrations of DHEAS,has been considered a benign condition until recently,where associations to increased metabolic risk and PCOS have arisen,which may depend on ethnic background and infancy weight gain.Objective and hypotheses: To determine whether PA in girls determines:i)a different timing of pubertal events, and ii)a different pattern of Ovarian morphology/hormones and adrenal hormones....

Introduction: Primary growth hormone (GH) insensitivity is an autosomal recessive pathology caused by molecular defects in the GH receptor gene. In Chile there are 3 reported patients.Clinical case: Female patient, newborn of 37 weeks, due to delivery, adequate for gestational age. Son of non-consanguineous parents. Hospitalized at 12 hours of life in the neonatology unit due to persistent tremors, jaundice and septic sy...

Background: Childhood cancer survivors (CSS) are at risk for several late effects, among them increased risk of metabolic syndrome (MetS). We wanted to study if female hypogonadism was a risk factor for MetS.Method: This study included 167 female CCS, mean age 34.3 (19.3-57.8) years in the South region of Sweden and 164 matched controls, mean age 35.0 (19.3–58.0). The female CCS were diagnosed at mean age 8.9 (0.1-1...

Background: Early genetic diagnosis in patients with disorders of sex development (DSDs) can facilitate clinical management, predict recurrence risks, and augment general knowledge. Novel techniques such as SNP microarrays, GWAS, and exome sequencing have identified mutations in the coding regions of genes linked to DSDs. In some instances, variants in non-coding regions have been associated with 46,XY gonadal dysgenesis, e.g. deletions upstream of SOX9 (PLoS One 2011...

Background: X-linked AHC is a rare disorder of the adrenal cortex caused by mutations in the NR0B1 (DAX1) gene. NR0B1 (DAX1) encodes for an orphan nuclear hormone receptor which is expressed in the adrenal, gonad, hypothalamus, and pituitary glands. Hypogonadotropic hypogonadism (HH) is the most frequently observed puberty disorder (absent or delayed puberty) caused by mutations in the NR0B1 (DAX1) gene and is due to impaired gonadotropin synthesis a...

Background: Isolated premature thelarche (IPT) is characterised by precocious breast development without any other signs of puberty.Objective and hypotheses: The aim of the study was to analyze hormonal activity of the pituitary – ovarian axis in girls with IPT.Method: 102 girls with IPT (Tanner stage 2–3), mean age 2±1.4 years (0.04–7 years), mean weight 12.3±4.3 kg, mean height 85.0±13.6 cm (45±...

Background: Brown adipose tissue metabolism is of remarkable pathophysiological interest, because it could be a target for therapies for obesity and metabolic syndrome. Irisin (Ir), recently identified adipomyokine is essential in a white-to-brown fatty tissue transdifferentiation, and mediates some of the positive influences on metabolic disorders through increase of energy expenditure. The exact regulation of Ir secretion and action is unknown but positive associations of ci...