ESPE Abstracts

Purpose: Identify CYP21A2 gene variants in pediatric patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from Henan, China, and to analyze genotype-phenotype correlations. We also analyze the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype.Materials/Methods:A total of 214 21-OHD children were recruited in Henan children's hospital from 2008 to 202...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

Gonadotropin releasing hormone agonists (GnRHa) stops premature sexual maturation in young children and preserve the potential of achieving acceptable adult height.Aim: To assess the efficacy of long acting GnRHa in suppressing early pubertal development and its impact on height outcome in our patient population.Methods: Records of children treated with GnRHa since 2018 at Hull University Hospital;...

Disorders of sex development (DSD) comprise a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo resulting in relatively rare conditions having diverse pathophysiology. The aim of the current work is to study the clinical characteristics and testicular function of patients with 46 XY DSD. A cross-sectional study was done included children with initial presentation of atypical genitalia and satisfied th...

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XY disorder of sexual development (DSD).Methods: The 125 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods and molecular ...

Background: McCune-Albright-Syndrome (MAS) is an extremely rare multisystem disorder that affects bones (fibrous dysplasia), skin (cafe-au-lait spots) and endocrine organs (hyperfunctioning endocrinopathies) and is caused by somatic mutations in GNAS gene.Materials and methods: We have evaluated 55 pediatric patients (44 girls (G) and 11 boys (B)) diagnosed in the period of 20 years. Mutation analyses using competitive allele-specific TaqMan PCR...

Background: Traditionally, the standard endocrinological evaluation of 46, XY DSD cases is based upon measurement of testosterone, dihydrotestosterone and androstenedione and their ratios either in mini-puberty or under human chorionic gonadotropin (hCG) stimulation. However, this method is of limited value in reaching definite diagnosis in many cases. More recently, there is a growing appreciation of the value of assessing Sertoli cell function because the most active compart...

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

Background: Fetal growth is the fastest of all periods of growth in human life, mainly due to cellular hypertrophy and proliferation. It was recently discovered that the metabolic and mitogenic effects of Insulin are mediated by two Insulin Receptors (IR) isoforms, IR-A and IR-B. High expression of IR-A indicates proliferation and differentiation whereas IR-B indicates metabolic dominance.Objective and hypotheses: The aim of the study was to examin the e...