ESPE Abstracts

Background: In 2011, nationwide growth charts were introduced, replacing different regional references (ZLS, Prader 1989; Sempé 1979 and, for BMI only, Kromeyer 2001).Objective and hypotheses: The aim was to examine the influence of new growth charts (WHO 2010) on the prevalence of nutrition- and growth-related disorders compared the ‘old’ references.Method: 6007 anonymised weight and height datasets of children meas...

Background: Although multiple imprinting defects have been found by genetic analysis in a subset of patients with Beckwith–Wiedemann Syndrome (BWS), very few patients have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.Methods: Methylation analysis of the KCNQ1OT1 gene was performed by Southern blot, methylation analysis of the GNAS region was done by MLPA.<p class="abs...

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

Background: Glycaemic control is adversely affected by family conflict derived from the psychological impact of the disease upon parents.Objective and hypotheses: To identify parental psychological stressors and thus interventions deemed useful to provide parental support.Method: 252 diabetic children were identified and PIP questionnaires were sent to each household to assess parental stress. Two parental focus groups were held to...

Background: We have previously shown that estradiol (E2) matrix patches for adults could be cut in smaller pieces to administer low doses for pubertal induction in girls with hypogonadism. With a slow increase of the patch size during a few years, serum E2 levels in normal girls undergoing puberty can be closely mimicked.Objective and hypotheses: To evaluate storage conditions once the patch has been cut.Metho...

Background: The Turner syndrome (TS) Working Group of the ESPE intends to start an international study comparing transdermal estradiol (E2) vs oral E2 in Europe in girls with TS. For this, stable and reliable products for children are needed, for use in different countries with different climates. It has previously been shown that E2 matrix patches for adults can be cut in smaller pieces to administer low doses for pubertal induction in girls. The Turner Working Group plan to ...

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is &acy; rare multisystem disorder due to mutations in the autoimmune regulator gene (AIRE). APS-1 usually is characterized by a triad of hypoparathyroidism, primary adrenal insufficiency (PAI) and chronic mucocutaneous candidiasis. In the absence of the classic triad, the diagnosis becomes obscure and is often delayed.Case presentation: We report a 12 years ol...