ESPE Abstracts

Background: The diagnosis of severe primary IGF-I deficiency (IGFD) in children with normal growth hormone (GH) peak in stimulation tests (stimGH) should be confirmed by IGF-I increase <15.0 ng/ml during generation test (IGF-GT), however the significance of IGF-GT has been questioned by some researchers.Objective and hypotheses: Evaluation of the significance of IGF-GT in children with normal stim GH and IGFD, with respect to efficacy of growth-promo...

For decades, the dominant conceptual framework for understanding short and tall stature was centered on the GH-IGF-I axis. However, recent findings in basic molecular and cellular biology and in clinical genetics have uncovered a vast array of other regulatory systems that control skeletal growth and an accompanying vast array of genetic defects outside the GH-IGF-I axis that can cause disorders of linear growth. As a result, the traditional view of short or tall stature that ...

Introduction: Recombinant Growth Hormone (GH) has changed the lives of many patients with Prader-Willi Syndrome (PWS). GH treatment has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function and quality of life of patients with PWS. Due to the narrow therapeutic range, GH treatment is subject to strict limits. Clinicians measure serum immunoreactive Insulin-like Growth Factor 1 ('total IGF-I&#...

Background: Neonatal over-nutrition (NON) can increase the propensity to become overweight and develop associated metabolic disturbances in later life. Moreover, some of these long-term effects are sexually dimorphic.Objective and hypotheses: We aimed to determine how NON affects body weight (BW), body composition and triglyceride (TG) and non-esterified fatty acids (NEFA) levels. We hypothesized that the effects would be both age and sex dependant.<...

Background: Patients affected by pseudohypoparathyroidism type 1b (PHPI-b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of imprinted expressi...

Background: Multiple daily injections of insulin for children and young people with diabetes can be very daunting and, some have a phobia of needles. As a result, for some individuals, the use of an i-port device can be life-changing and help with their diabetes management. The i-port is an injection port that enables diabetes patients to administer their insulin without having to puncture their skin multiple times in a day. In most cases, the i-port can stay ...

Background: Prolonged poor dietary habits can result in hypothalamic inflammation and gliosis with more recent studies suggest that other brain areas may also be affected. Western or high fat diet intake has been associated with increased cognitive impairment and aberrant feeding behavior, with males and females being differentially affected. The hippocampus participates in both of these functions. Saturated free fatty acids can induce astrocyte inflammation and this could pot...

Neonatal diabetes (ND), classified as either permanent (PND) or transient (TND), occurs in 1/200,000 live births. In 50% cases of TND, remission presents within the first year of life, only to relapse later before puberty in 50% of cases. The most frequent cause is mutation of the 6q24 gene accompanied by mutations in heterozygosis of ABCC8 gene. 80% of mutations in this gene are in novo, due to autosomal recessive inheritance. Such cases respond to treatment with sulfonylurea...

Tricho-rhino-phalangeal syndrome Type I (TRPS I) is a rare autosomal dominant genetic disorder clinically characterized by craniofacial and skeletal abnormalities, associated with cone-shaped epiphyses, brachydactyly and short stature. Although patients with TRPS I present various degrees of short stature, there are only four reports of growth hormone deficiency in patients with TRPS I. We present the case of TRPS I and partial GH deficiency. A 15-year-old female was referred ...

Background: Recently we described a family with several members having intrauterine and postnatal growth failure as well as signs of Silver–Russell syndrome (SRS) who carried a heterozygote nonsense mutation of IGF2. The patients had low IGF-II serum levels, but normal IGF-I serum levels.Objective and hypotheses: We aimed to estimate the diagnostic value of the IGF-II, IGF-I and IGFBP-3 measurements in the assessment of children with SRS.<p clas...