ESPE Abstracts

We analyzed the clinical data and the growth parameters of 50 newborns and young infants (age: 1.6 ± 0.9 months) admitted to our hospital (Al Wakhra Hospital, Department of Pediatrics, Doha, Qatar), between 1-1-2016 to 1-1-2017, with acute meningitis. Anthropometric measurements included weight, length, and head circumference. Length SDS (L-SDS) and body-mass-index (BMI) were calculated and recorded at every clinic visit, every 3 months for 8 ± 2 months.<p class=...

The mutation of the SHOX gene is a cause of short stature by varying frequency depending on the published work, but estimated at around 3-10 % of cases of short stature. The main diagnostic scheme for starting genetic testing is the Rappold score, which requires clinical and radiological criteria, under which this form of short stature is framed as a disharmonious. In our clinical experience, however, we also looked for mutations in the SHOX gene in patients with signs of ...

The objective of this study has been the analysis of plasma chemistry in a group of children born SGA at the University Hospital of Álava- Txagorritxu and biochemical parameters related to the metabolic syndrome.Material and Methods: In a cohort of 27 subjects sub (13 boys and 14 girls) from the epiPEG-PreMeb study, a blood sample at 3, 12 and 24 months of life it was extracted. Biochemical parameters s and measured by automated and...

Achondroplasia (Ach) is a skeletal disorder caused by gain-of-function mutations of FGFR3. Ach patients suffer from various complications such as short stature, foramen magnum stenosis and sleep apnea. Disease-specific treatment is not available at present, although some drugs including a C-type natriuretic peptide analogue have been developed. The mutated FGFR3, G380R, has an elevated activity of the receptor-associated tyrosine kinase, but G380R is further activated...

Background: Kisspeptin (encoded by the KISS1 gene in humans), originally described as a puberty onset regulating neuropeptide, is involved in many homeostatic systems, including nutrition status, glucose homeostasis, locomotor activity, etc. Thus, in today’s obesity epidemic, kisspeptin is gaining increasing interest as a research target.Aim: To construct an updated interactome of genetic determinants of obesity, including the kisspeptin si...

Aim and background: Growth hormone (GH) treatment of short children born SGA and its effects on growth varies greatly between treated individuals. In the present study we tested the performance of a preexisting growth prediction model (Ranke et al.; JCE&M 2003 pp. 125–131) to estimate 1st-year height velocity (HV) in a german subcohort of prepubertal children born SGA treated with GH (Omnitrope).Methods: 190 treatment-naïve prepu...

Introduction: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include ‘atypical’ GHIS subjects with milder phenotypes due to very rare heterozygous GHR mutations with dominant negative effects.Case description: A 13 year old pubertal boy was presented with short stature (−1.7SD) and delayed bone age (11 6/12). Final adult height was &#8...

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...

Background: Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP). Poor skeletal mineralisation, muscle weakness, pain, and accompanying complications characteristic of HPP result in impaired physical function, decreasing ability to perform daily activities, and quality of life. Improvement in physical function is a treatment target, yet established physical ac...

Background: That mortality is not increased in rhGH-treated patients when adjusting for birth characteristics was recently published (1). When applying a developed mortality model of the general population, the observed and expected deaths in rhGH-treated IGHD, ISS and SGA patients (n=3847) where 21 and 21.99, respectively. The model includes gender, age, calendar year, gestational age (GA), birth lengthSDS (BLSDS), birth weightSDS (BW...