ESPE Abstracts

Background: Treatment for child GHD requires daily injections, which can be painful and disruptive. For most children, these injections are administered by an adult, usually their parent. Unfortunately, little is known about the burden that a child's treatment places on a parent. The GHD-PTB was developed according to FDA/EMA guidances to address this gap. Items were based on qualitative interviews of 31 parents of children with GHD, ages 4 to <13 year...

Introduction: C-type natriuretic peptide (CNP, NPPC gene) and its receptor, natriuretic peptide receptor B (NPR-B, NPR2 gene), is critical for endochondral ossification in growth plate. Biallelic NPR2 mutations are known as acromesomelic dysplasia, type Maroteaux which is characterized by severe short stature. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth.Obje...

Context: Turner syndrome (TS) predisposes to obesity and related disorders being a part of the metabolic syndrome. As TS population is at a higher risk of cardiovascular diseases research for laboratory markers of metabolic complications is ongoing. Based on our previous observation special significance is attributed to MMPs (matrix metalloproteinases), their inhibitors TIMPs and neurotrophic factors, such as BDNF (Brain-Derived Neurotrophic Factor) and GDNF (...

Objectives: Previous studies have described impaired growth in HIV-infected children. Many of them showed weight and height improve after ART initiation Most series include children from resource limited settings in which malnutrition is frequent and treatment is not fully available. We aim to characterize long-term growth in a cohort of HIV-infected children after ART initiation and to identify determinant factors.Methods</stron...

Background: Turner Syndrome (TS) is a sex chromosome aneuploidy (45,X) associated with social skill difficulties. The 2016 Cincinnati clinical care guidelines recommend that the Program for the Education and Enrichment of Relational Skills (PEERS) social skills intervention is piloted. PEERS has previously been used in face-to-face interventions with male adolescents with autism spectrum conditions. This pilot project will be the first to examine the feasibili...

Background: A few patients with NS have been reported to harbour pathogenic mutations in LZTR1 gene. RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease. Mutations in this gene could hence lead to NS phenotype. Three patients with mutations in this gene and compatible NS phenotype are herein described.Case 1: A 5 year-old boy with bilateral cryp...

Summary Answer: The majority of the expert panel states that ovarian tissue cryopreservation (OTC)should be offered to young females with Turner syndrome (TS)Background: OTC is a valid option to preserve the fertility of young females at risk of iatrogenic premature ovarian insufficiency (POI). Offering OTC to females with a genetic cause of POI seems a logical next step. One of the most common genetic disorders related ...

Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.The aim of this study is to retrospectively evaluate the prevalen...

Background: The precision of adult height prediction by bone age determination in children with idiopathic growth hormone deficiency (IGHD) is unknown.Patients and Methods: The near adult height (NAH) of patients with IGHD with prepubertal onset of growth hormone treatment (GH) in the KIGS database was compared to adult height prediction based on bone ages (BA) >7 years using the Bailey Pinneau (BP) or Tanner-Whiteho...

Background: For children with retarded bone ages such as in constitutional delay of growth and puberty (CDGP) there are no specific methods to predict adult height based on bone age. Widely used methods such as Bayley-Pinneau (BP) tend to overestimate adult height in CDGP. Therefore, we aimed to develop a specific adult height prediction model for boys in pubertal age with retarded bone age >1 year.Methods</...

We analyzed the effect of having different BMI and BMI SDS, if any, on linear growth (HtSDS) in a cohort of prepubertal children (n = 102) in different BMI categories. In addition, we studied the effect of weight changes on linear growth in a randomly selected group of underweight children after nutritional rehabilitation (NR).Subjects and Methods: All prepubertal children between 1 and 9 years presented to the general pediatric clin...

Background: Prader Willi Syndrome (PWS) patients under treatment with growth hormone (GH) have a better body composition and cognitive performance than untreated patients. The 2013 guideline recommended to start this treatment as soon as possible, for that reason 14 toddlers have been included in our center. Classically a 25% decrease in the caloric intake of PWS patients has been recommended to avoid obesity. However, from clinical practice observation, w...

Background: Turner syndrome (TS) is caused by complete or partial of the second sex chromosome and characterized bygrowth failure, primary ovarian failure, the constellation of the lymphedema sequence, characteristic facial features, left-sided cardiac anomalies, renal anomaly, and skeletal anomalies. Among all of the associated traits, cardiovascular abnormalities are common in TS and an important cause of early mortality. Hence, our aim is to investigate the...

Background: Pubertal induction with incremental doses of oestrogen replacement is an important component of care offered to hypogonadal patients with Turner Syndrome (TS). Low dose oral ethinylestradiol (EE) has been extensively used in the UK but natural 17-β oestradiol (more physiological, cheaper and easily monitored in blood) is becoming increasingly popular.We undertook this audit to compare the efficacy and acceptability of...

Background: Genetics plays a strong role in height. However, for most patients, no cause for the short stature can identified. Whole-exome sequencing (WES) is becoming an increasingly important tool for detecting novel genetic causes of short stature. Blood is the preferred DNA source for germline studies using WES. However, DNA from saliva is a more convenient and cost-effective alternative.Objectives: We aim to identif...

Background: Multiple factors may affect intrauterine growth leading to birth of children small for gestational age (SGA). The impact of subtle genetic alterations on both pre and post-natal growth is still largely unknown.Objective and Hypotheses: The aim of this study was to investigate the prevalence of CNVs in a cohort of SGA children with persistent short stature.Subjects and Methods</s...

Background: Short children born SGA are predisposed to metabolic abnormalities. While the benefit of recombinant human growth hormone in improving height is widely recognised, it can affect carbohydrate metabolism and lead to impaired glucose tolerance during treatment. This ongoing, prospective study is assessing the long-term safety and efficacy of Omnitrope® (somatropin) in children born SGA. Here we present data from an interim analysis con...

Introduction: Turner syndrome (TS) is a genetic condition which is reported to be associated with electrocardiogram (ECG) abnormalities, of which the rate-corrected QT interval (QTc) is the most common indicated deviation. Our objectives were to gain more insight in the prevalence of QTc-prolongation using both Bazett's and Hodge's correction formulas in patients with TS of all ages and to investigate whether QTc prolongation is more prevalent in patie...

Background/Aims: Schaaf-Yang syndrome (SYS) is a rare disorder caused by a truncating mutation in the gene MAGEL2, located in the Prader-Willi critical region on chromosome 15. SYS is characterized as a Prader-Willi-like (PWL) disorder, with neonatal hypotonia, feeding problems in early infancy and intellectual disability, obesity and behavioral problems throughout childhood. In this case report we describe a 15-year-old girl, receiving GH treatment since age ...

Introduction: Short stature is a multifactorial condition caused by both genetic and environmental factors. Genetic causes include chromosomal disorders and diseases inherited by monogenic and multifactorial inheritance. The purpose of genetic evaluation in short stature is not only for diagnosis, but also to provide additional information to the patients and their families about prognosis of the disease, treatment approaches and genetic counseling.<p clas...

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

Purpose: Needs in terms of quality of life (QoL), consisting of physical, emotional and social domains, represent a hot spot in idiopathic short stature (ISS). Between ISS, it is estimated that 12% can have SHOX deficiency. Furthermore, SHOX deficiency can affect posture and GH treatment ameliorate their QoL. Although scientific research has investigated many fields of the physical domain, very few studies highlighted how this pathological condition may af...

Background/Aims: It is known that growth hormone regulated metabolic processes, including lipid metabolism and the amount of adipose tissue. The purpose was to study metabolic rates at rest in children with growth hormone deficiency (GHD) and their relationship with lipid and hormone levels.Objective: To analyse the body composition and resting metabolic rate (RMR) among prepubertal children with GHD<p class="abstext...