ESPE Abstracts

Background: Recurrent miscarriage (RM) is traditionally described as three or more consecutive pregnancy losses and remains a challenging condition, affecting 1-3% of couples trying to conceive. Although factors such as uterine abnormalities, maternal hypothyroidism and parental balanced translocations are associated with RM, in most situations the aetiology is unknown. The coexistence of RM and live births in many families suggests a potential association wit...

Introduction: WAGR syndrome was first described in 1964 by Miller et al. And is characterized by Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. Endocrine/metabolic problems (obesity, dyslipidemia, hypertension, short stature), especially obesity, are seen in more than 70% of cases with WAGR syndrome. Here, we aimed to present a case with WAGR syndrome for endocrine evaluation.Case: A 12...

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: The etiology of short stature is heterogeneous, often encompassing complex genetic disorders of difficult diagnosis. Analysis of chromosomic copy number variants (CNVs) has been demonstrating the important role of these genomic imbalances in population diversity and human disease.Objective and hypotheses: To analyze the frequency and describe novel submicroscopic chromosomal CNVs in a group of patients with short stature of unknown cause....

Background: Prader–Willi syndrome (PWS) is characterized by a switch in early childhood from failure to thrive to excessive weight gain and hyperphagia with impaired satiety. The underlying mechanism for this switch may involve hyperghrelinemia, but only poor data exists regarding levels of acylated ghrelin (AG), unacylated ghrelin (UAG), and the AG/UAG ratio in PWS.Objective and hypotheses: To investigate plasma levels of AG and UAG in PWS, compare...

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...

Although craniopharyngiomas are of low-grade histological dignity and have good prognosis in terms of overall survival, survivors may suffer from devastating consequences caused by hypothalamic damage. Disease and/or treatment-related hypothalamic damage leads to disturbed hunger-satiety and thirst feelings, decreased energy expenditure, behavioral problems, disturbances of circadian rhythm, temperature dysregulation, and pituitary dysfunction. These patients are at great risk...

Introduction: The 3 M- syndrome is a rare autosomal recessive disease, which was named after the three first authors Miller, McKusick and Malvaux. It is characterized by pre- and postnatal disproportionate short stature with micromelia, relative macrocephaly, and radiological bone dysmorphism. It is based on a mutation in one of the three genes CUL7, OBSL1 or CCDC8.Methodology: We report on a meanwhile 4 4/12- year- old girl who presente...

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...

Background: The association of intrauterine growth restriction (IUGR), adrenal insufficiency and gonadal dysgenesis is well recognised. Some children have been reported to develop monosomy 7 and myelodysplasia. However, the genetic basis of this condition was poorly understood.Objective and hypotheses: Our aim was to investigate the genetic basis of eight children with IUGR, adrenal insufficiency and gonadal failure and additional features including seve...