ESPE Abstracts

Background: Traumatic brain injury (TBI) is common in childhood and can induce pituitary defects. Long-term endocrine consequences are missing.Objective and hypotheses: To determine in a prospective way if pediatric patients with a personal history of TBI developed long term pituitary deficiency independently of the results of the early hormonal investigation.Method: Prospective follow-up of an initial cohort of subjects (0–15...

Background: Vaginal agenesis (VA) in MRKH syndrome can be managed either by surgery or autodilatations.Objective and hypotheses: To compare different managements of MRKH-VA in terms of quality of life, sexual function, anatomical results and complications.Method: National Multicentric observationnal study including 130 patients older than 18, at least one year after completing VA management, from October 2012 to April 2015. 84 had ...

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine sufficient regions. TD includes a broad spectrum of developmental anomalies varying from absence of thyroid (athyreosis) to an abnormally located thyroid (ectopy), small (hypoplasia) or asymmetric thyroid. Thyroid dysgenesis is usually sporadic, but up to 2% of cases is familial. Genetics of TD is complex and advances in developmental biology over the past two decades revealed monogenetic f...

Background: Very early onset diabetes mellitus (neonatal diabetes mellitus (NDM)) seems to be unrelated to autoimmunity in most instances. A number of conditions are associated with NDM, some of which have been elucidated at the molecular level. Among these, the recently elucidated mutations in the KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunit of the pancreatic KATP channel involved in regulation of insulin secretion, account for one...

Background: An ENDO-ERN initiative was launched which was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis and management of prima...

Objective: Craniopharyngioma is a benign brain tumour with frequent local recurrence after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. The objective was to evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of recurrence.Design: Our r...

Background: The post-authorisation registry, European Increlex® Growth Forum Database (EU-IGFD), initiated in December 2008, collects data in children receiving Increlex (mecasermin (rDNA origin) injection) for growth failure, including Laron syndrome (LS) (severe primary IGF1 deficiency with confirmed GH-receptor mutation).Objective and hypotheses: Report safety and effectiveness data in children with LS.Method: Multicentre, ...

Background: Treatment with GH in children born small for gestational age (SGA) increases height velocity (HV) but data on adult height (AH) are scarce.Objective and hypotheses: To report AH in a group of SGA children treated with GH.Method: This is a post-marketing longitudinal analysis of SGA children treated with GH and included in France in KIGS. Selection criteria were children followed at least one year and having reached AH b...

GHD is the most common endocrine disorder in children with short stature (~1 in 4000). Appropriate diagnosis should synthesize auxological, biochemical and neuroradiological data. However, until now there are significant controversies, especially from the laboratory interpretation. A false positive diagnosis can lead to a significant wasted expenditure and unnecessary exposure to rare potential adverse effects. Given these open issues about biochemical diagnosis of GHD in chil...

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...