ESPE Abstracts

Background: In industrialised countries, the main goal of growth monitoring (GM) of apparently healthy children is the early detection of severe underlying conditions. However, empirical evidence suggests globally poor performances of GM, with important diagnosis delays for priority target conditions and many unnecessary referrals for diagnostic work-up for disease-free children.Objective and hypotheses: To evaluate and to compare the performance for ear...

Background: The pathogenesis of type 1 diabetes (T1D) is multifactorial, caused by interaction of genetic, epigenetic and environmental factors that lead to the production of antibodies early on life and a gradual loss of insulin secretory capacity of the pancreas. The genetics and immunological characteristics of our T1D population have not been precisely identified.Objective and hypotheses: To compare biochemical, genetic and immunological features of ...

Background: A decrease in random LH concentration is observed after initiation of treatment for central precocious puberty (CPP), but the suitability of random LH concentrations for assessing efficacy is controversial. Although Neely et al. reported that random LH values frequently fail to demonstrate suppression to prepubertal levels,1 Lee et al. demonstrated that a cutoff of random LH <0.6 IU/l may be adequate for monitoring s...

Introduction: Isodicentric Y chromosome[idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45, X cell line.Methods: The aim of this study was to investigate the genotype and phenotype variability of patients with idic(Y). The clinical data from five patients was ext...

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease that is characterized by a combination of various endocrinopathies and other autoimmune disease components. Few longitudinal studies have shown a decreased life expectancy in APECED. However, knowledge on mortality and causes of death in patients with APECED is scarce.Objective: Our aim was to descr...

The easypod™ electromechanical injection in combination with the easypod Connect platform electronically records and transmits, in real time, accurate, objective records of the date, time and dose injected for patients receiving Growth Hormone (GH) for growth disorders, limiting the risk of misreporting and allowing physicians to accurately monitor patient behavior.The aim was to study individual patterns of adherence from start treatment up to 24 m...

Background: Masculinisation tempo on sex-steroid replacement in boys with multiple pituitary hormone deficiencies (MPHD) and pubertal growth spurts on adequate GH-treatment regimens were unknown in 1989 and are still not optimal.Objective and Hypotheses: A hypothesis driven prototype trial1,2 was initiated in the late 80ies aiming to mimic normal puberty3 regarding both degree and tempo of masculini...

Introduction/Aim: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition. The aim was to describe the patterns of growth in PWS and the influence of both changes in clinical practice and GH therapy.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 200...

Background: Turner Syndrome (TS) is associated with short stature and skeletal disproportion. The impact of treatment with recombinant human growth hormone (rhGH) and oestrogen therapy on body proportions is unclear.Objectives: To evaluate sitting height (SH) and leg length (LL) in TS before growth promoting therapies and at adult height.Method: Retrospective study of height (Ht), SH and LL standard deviation score (SDS) in TS. Bod...

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...