ESPE Abstracts

Background: The diagnosis of Growth Hormone Deficiency (GHD) involves the use of GH stimulation tests that require day case admission, multiple blood sampling and are associated with significant adverse effects.Aim: To assess the utility of gene expression (GE) profiling and candidate SNP analysis for the diagnosis of and classification of GHD.Method: Pre-pubertal treatment-naïve children with GHD (n=98) were enrolled from the...

Background: The height of children has a Gaussian distribution. Genetics explain an important part of individual variability, but no single genomic variant accounts for more than 0.3% of height variance. At the interface of genetics and environment, epigenetics is expected to contribute to phenotypic variability. IGF1 is an attractive locus to test this hypothesis.Objectives: To quantify the effect of CG methylation of IGF1 promoters on height.<p cla...

Background: TransCon hGH is a long-acting prodrug of recombinant human growth hormone (hGH) that releases fully active unmodified hGH into the blood compartment. This presentation will detail the final safety and efficacy results of TransCon hGH in a Phase 2 study in children with GHD over a treatment period of six months.Objective and hypotheses: The objective of this Phase 2 study in GHD was to investigate 1) safety and tolerability, 2) pharmacokinetic...

Background: The relationship of pre-treatment gene expression (GE) to long-term growth response in GHD is unknown. Prediction of long-term response to r-hGH therapy would allow better decision making about start and maintenance doses and hence cost:benefit.Objective and hypotheses: To assess the relationship of baseline GE to response to r-hGH over 5 years of therapy in GHD children.Method: Pre-pubertal children with GHD (n</em...

Background: op’DDD can be used in adrenal cortical carcinoma (ACC) i) when surgery is impossible ii) or as an adjunct to surgery when local extension or metastases are present.Objectives and hypotheses: To report the unexpected spectacular effects of op’DDD in an unoperable ACC.Patient and results: A 3-year-old black African girl presented in poor shape with a 2-year history of pubic hair, clitoromegaly, abdominal distens...

Background: Reports of Cushing syndrome during the first month of life are rare. Mortality is high, despite medical (metyrapone) or surgical (adrenalectomy) treatment.Objectives: To report a new neonatal case of Cushing due to McCuneAlbright syndrome (MAS).Patient and results: Although a healthy baby at age 10 days, a newborn girl presented with sudden manifestations within the following 2 weeks: facial and truncal plethora, severe...

Background: Bone X-rays provide the main diagnostic parameters for chondrodysplasia, including common dyschondrosteosis (DC). Skeleton is usually studied piece by piece by visual analysis in search of characteristic signs. The phenotypic spectrum of DC is large. Indeed, children who have seemingly idiopathic short stature (ISS) may have subtle forms of DC that can be unrecognized.Objectives: Provide a user-friendly computer-assisted program that facilita...

Background: Genital surgery in disorders of sex development (DSD) has been an area of debate over the past 20 years. One can question and even defy the routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence.Objective and hypotheses: To a...

Background: TransCon hGH, is a once-weekly prodrug releasing unmodified hGH, for the treatment of Growth Hormone Deficiency (GHD) in children and adults. To date, TransCon hGH has demonstrated comparable efficacy, safety and anti-hGH immunogenic profile to daily hGH, with no occurrence of neutralizing antibodies.Objective and hypotheses: Protein-based therapies may be associated with generation of drug-specific antibodies, which may impact efficacy, part...

Background: Access to essential medicines remains suboptimal in Africa. The World Health Organisation (WHO) maintains two non-binding essential medicine lists (EML) (for children and for adults). Individual countries refer to these lists to prepare national EMLs.Objective and hypotheses: To determine which medicines commonly used in pediatric endocrinology and diabetes are included in the WHO and national EMLs in the WHO African region. We hypothesize th...