ESPE Abstracts

Background: The most frequent cause of familial growth hormone deficiency (GHD) is Type II autosomal dominant GHD (isolated GHD type II) due to several heterozygous GH1 mutations.Method: Genomic DNA from patients with familial GHD was enriched for the coding exons using hybrid capture technology and GH1 was sequenced using Next Generation Sequencing technology. Plasmids containing genes for WT and A34T GH1 were transfected into NCI HEK2...

Introduction: Various types of mutations in GHRHR cause isolated growth hormone deficiency type 1B. Here, we report the clinical features associated with deletion of whole GHRHR gene for the first time.Case: A four-year–and-nine-month-old otherwise healthy girl was admitted due to short stature. She was born at term with a birthweight of 3750 gr. Her height velocity slowed down after 2 years of age. The mother (157.8 cm, −0.8...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

Background: We recently reported three children with severe isolated growth hormone (GH) deficiency and pituitary hypoplasia due to biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. Although it is clear that these patients are GH deficient, the underlying mechanism for this deficit is not totally understood.Objective:...

Background: Laron syndrome (LS), (OMIM#262500) is a rare recessively inherited disease caused by deletions or mutations of the GH receptor, and is characterized by low or undetectable serum IGF-I. This deficiency leads to a series of metabolic abnormalities including of the proteins.Subjects & Method: This study presents for the first time the amino-acid analysis of two untreated and one IGF-I treated LS patients using the LC-MS/MS method (Waters TQS...

In a retrospective study (1), we found that a GH<6.5 μg/L, IGF-I-WHO87/518 <30 μg/L and IGFBP-3<0.8 μg/mL confirmed GHD diagnosis with high diagnostic accuracy in neonates with clinical suspicion of GHD. GH and insulin negatively regulate IGFBP-2, and it was proposed to reflect GH status in the diagnostic work-out of GHD in childhood and adults. The accuracy of IGFBP-2 has not been set for neonates.Objective: To prospectively v...

Introduction: Klotho is a protein which may serve as a regulator of GH secretion. Growth hormone deficiency is diagnosed in children with growth restriction when GH secretion in two GH stimulation tests do not exceed the level of 10 ng/ml.Aim: The objective of the study was to investigate Klotho and FGF23 in children with growth hormone deficiency (GHD) and their responce to the treatment with recombinant human growth hormone (rHGH).<p class="abstext...

Introduction: Angiopoietins are necessary for development, differentiation and stabilization vessels progress. Angiopoient 1 (Ang-1) is responsible for vascular integrity, through stimulation of endothelial cell migration and adhesion, and inhibition of apoptosis. Action of angiopoietin 2 (Ang-2), in the absence of VEGF it Leeds to vascular regression, but in the presence of high VEGF concentration it stimulates angiogenesis. Stromal derived factor (SDF-1) play an important ro...

Background and objective: The peak GH value plays a crucial role in the diagnosis of idiopathic growth hormone deficiency (iGHD). However, the prediction of peak GH in iGHD diagnosis is known to be limited. The purpose of this study was to evaluate the clinical and diagnostic usefulness of the total sum of GH values obtained from the GH stimulation test.Materials and methods: We retrospectively reviewed 178 prepubertal children who were diagnosed with iG...

Premature infants born small by gestational age (SGA) represent a potential cohort for growth retardation. However, up to the present time, questions of the frequency and severity of the growth deficit, the timing of the growth rate, the age of achievement of the population standard depending on the gestational age have been discussed.Aim: To assess the dynamics of growth of preterm infants born small by gestational age within 5 years of life, taking int...

Background: Following Barker’s hypothesis on fetal growth retardation, low birth weight and being born small for gestational age (SGA) might be linked to fewer glomeruli which influences adult disease. Growth hormone (GH) treatment leads to a greater kidney length and total kidney volume, as well as a higher glomerular filtration rate (GFR). Microalbuminuria, defined as more than 20 mg/l albumin in random urine sample, is a marker for renal diseases and is a risk factor f...

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...

A small number of GH deficient patients can be recognized before age 3, and only few of them are diagnosed during work-up for hypoglycemia. Data comparing clinical and laboratory characteristics of hypoglycemic vs non-hypoglycemic population of children with early onset GH deficiency is scarce. The aim of this study is to assess long-term follow-up of growth hormone therapy in early onset GH deficiency, and compare pre-treatment and treatment related factors with respect to hi...

Background: Growth hormone (GH) is a diabetogenic hormone.Objective: To determine the long term risk for diabetes in a cohort of children treated with recombinant human (rhGH) in Israel, using data from the Israeli National Diabetes Register (INDR) for 2014 as a reference.Methods and patients: Between the years 1988 and 2009, 2,513 children under the age of 19 were approved for GH treatment. The patients were categorized to a low-r...

Background: Hematopoietic stem cell transplantation (HSCT) has become more common in treating malignant and nonmalignant diseases in children. However, HSCT is associated with several late effects that can impair growth, like insufficient growth hormone (GH) secretion, hypogonadism and growth plate damage. Growth hormone treatment (GHRx) is offered but limited data are available on its effect on adult height.Objective: To evaluate the effectiveness of GH...

Objective: The Easypod Connect Observational Study (ECOS) is a prospective long-term observational study aimed at evaluating the level of adherence in patients receiving growth hormone via the easypod device. ECOS started in 2010 in 24 countries. The easypod auto-injector device enables accurate records of patients’ adherence to recombinant human growth hormone (r-hGH) to be collected, providing real-world data for evaluation. We present three years prospective adherence ...

Healthcare professionals (HCPs) receive adherence information on patient Saizen® recombinant human growth hormone (r-hGH) treatment via data wirelessly transferred from the easypodTM electromechanical delivery device to the web-based eHealth platform easypodTM connect. In order to empower patients and caregivers with this information and to provide educational tools, the growlinkTM mobile app is being ...