ESPE Abstracts

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...

Background: Determination of steroids in amniotic fluid (AF; Forest et al., J Clin Endocrinol Metab, 1980) has been essentially used in the three past decades for the prenatal diagnosis of 21-OH deficiency. With the recent advances of ultrasound technology (US) and the widespread use of amniocentesis, prenatal diagnosis of DSD appears more common especially if a mismatch between karyotype and external genitalia detected by US occurs. An accurate and specific ...

Background: The response to ACTH test (synacthen®) is a very useful for the screening of steroidogenesis enzymatic deficiency. With the development of steroid quantification by LC-MSMS more specific than most of immunoassays, the determination of reference value is required at basal and under stimulation time.Objective and hypotheses:: The aim of this study is the determination in the same extraction and chromatography after Synacthen references val...

Background: Bone age studies require X-ray of the left hand and wrist to assess skeletal maturity. The Tanner-Whitehouse 3 (TW3) scoring method provides an objective framework for calculating bone age and specifies exact placement of the hand. In our service we have noted a number of poor quality films, caused by difficulty with hand placement, e.g. scrunching of the fingers. This compromises the ability to score accurately and in a proportion necessitates re-X-ray, with time,...

Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder characterised in neonates by hypotonia and feeding problems. French birth incidence has never been reported.Objective and hypotheses: To evaluate incidence of PWS at birth in France.Method: Identification of patients with a molecular diagnosis of PWS born between January 1st, 2013 and December 31st, 2013 was obtained by combining va...

Objectives: In laboratory medicine, external quality assessment (EQA) schemes have become versatile tools for the detection of analytical flaws. However, for pediatric sex steroid levels EQA schemes are lacking. We aimed to investigate the suitability of different estradiol and testosterone immunoassays in a pediatric setting, in comparison with clinical liquid chromatography-tandem mass spectrometry (LC-MS/MS) assays.Methods:</s...

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

Background: Alterations of pre- and early postnatal growth can have long lasting impact on adult height, body composition and metabolic health throughout life. In monozygotic twins discordant for prenatal growth due to twin-to-twin transfusion syndrome (TTTS), we previously demonstrated lower cord blood IGF-I concentrations and earlier pubertal maturation, indicative of prenatal programming of endocrine systems, to be linked to reduced final height of the form...

Background: Measurement of salivary glucocorticoids is an accepted method for testing adrenal function and is gaining popularity as it offers a non-invasive collection technique, enabling sampling in the community or home environment, allowing tailored capture of steroid circadian rhythm and improved patient experience. However, there is little data on stability during home collection and sampling methods in young children. Current salivary collection techniqu...

Background: The Short Synacthen Test (SST) is the most popular test of adrenal insufficiency (AI) worldwide. The current SST protocol at Sheffield Children’s Hospital (SCH), UK, recommends measurement of serum cortisol at baseline, then 30- and 60-minutes post stimulation, with a peak cortisol of >429nmol/l constituting a pass. Our practice has evolved to consider near-pass results as “borderline” and patients may be treated with stress do...