ESPE Abstracts

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder, for which insulin-like growth factor-1 (IGF-1) generation test (IGFGT) is debated as a complementary diagnostic analysis. Diagnostic workup for SPIGFD varies geographically and diagnosis is delayed by the rarity of the condition (<1/10,000). Evaluation of real-world practices of IGFGT could help facilitate diagnosis and test use. Objective: to describe rea...

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...

Background: Insulin-like Growth Factor-1 (IGF-1) is an amino acid peptide produced under the effect of Growth Hormone (GH), mostly secreted by the liver, which stimulates bone growth. IGF-1 levels have high specificity and low sensitivity for the diagnosis of Growth Hormone Deficiency (GHD). Higher IGF-1 levels are classically associated with a better response to growth hormone therapy. The aim of this study was to investigate the correlation between serum IGF...

Background: DICER1 is a member of the Ribonuclease III family that plays a crucial role in the biogenesis and the maturation of microRNAs. Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations: in addition to first described pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumours, individuals may also develop benign (multinodular goiter MNG, cystic nephroma\.) or malignant tumours as differen...

Objective: Remission rates in young people with Graves’ hyperthyroidism are 25% or less after a 2-yr course of thionamide antithyroid drug (ATD). Immunomodulatory agents could potentially improve outcome by facilitating immune tolerance. We wanted to explore whether rituximab, a B lymphocyte depleting agent, would increase remission rates when administered with a short course of ATD.Design: This was an investigator-...

The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A-one year and four month-female patient had been reffered to our clinic for growth and developmental delay. Case history revealed a birth weight of 1740 grams on 39th week of gestation, with 42 cm body height and no prior hereditary conditions of clinical significance in her family. On physical examination, her height was 67 cm ...

Lipodystrophic syndromes are rare and heterogeneous diseases, characterized by a generalized or partial loss of adipose tissue (lipoatrophy) associated with metabolic complications usually associated with obesity: insulin-resistant diabetes, dyslipidemia, ovarian hyperandrogenism and non-alcoholic fatty liver disease.Molecular genetic studies in different types of lipodystrophies showed that primary adipocyte alterations leading to impaired adipogenesis ...

Introduction: Barakat Syndrome (HDR Syndrome) components are hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated with deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: An 11 years old female, was born to non-consanguineous parents. She came to an emergency department complaining of the occurrence of one attack of tonic convulsion...

LHX3, a member of the LIM-homeodomain transcription factors family, regulates pituitary development in vertebrates and the maintenance of mature anterior pituitary cells. Nineteen mutations in LHX3 gene have been reported in HGMD database, in homozygous and compound heterozygous patients. The phenotype may present with pituitary dysfunction only or with syndromes involving also nervous and skeletal systems. The MRI images include aplasia or hypoplasia of pitui...

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...