Endocrine Abstracts

Introduction: Turner syndrome is one of the most common human chromosomopathy and represents an important cause of short stature and ovarian insufficiency. It is caused by total or partial loss of X-chromosome and its prevalence is about 1 in 2000–2500 live female births.Objectives: To review the patients with TS followed in a Paediatric Endocrinology Unit since 1999.Methods: A retrospective study regarding diagnosis, course, ...

Introduction: Hypopituitarism is a clinical syndrome of deficiency in growth hormone (GHD) production, which can occur isolated or associated with others pituitary defects. GHD has an incidence of 1:4000 to 1:10 000. It may be idiopathic, congenital or acquired.Purpose: Characterize the paediatric population with GHD followed at the Paediatric Endocrinology Unit of our centre and compare the clinical presentation and treatment response of the patients wi...

Introduction: MODY 5 is a rare form of autosomal dominant monogenic diabetes with a broad phenotypical spectrum that occurs with pancreatic and extra-pancreatic clinical manifestations, such as: malformation and dysfunction of the pancreas, nephrourologic anomalies, impaired renal function, hepatopathy and neurocognitive defects. It is caused by a mutation of the gene encoding hepatocyte nuclear transcription factor 1 beta (HNF1β).Case 1: M...

Introduction: Monogenic forms of diabetes that develop with autosomal dominant inheritance are classically aggregated in the maturity-onset diabetes of the young (MODY) categories. Despite increasing awareness, its true prevalence remains largely underestimated.Aim: o evaluate the clinical and molecular characteristics of patients with MODY.Methodology: This single-center retrospective cohort study enrolled patients with positive g...

Introduction: In our country somatropin treatment is supported by the National Health Service. A National Committee (CNNHC) rules and analysis the submission papers of patients with: isolated/multiple somatotropin deficiency (STD), short stature in: renal chronic disease (DRC), small for gestational age (SGA), Turner syndrome (TS) and Prader Willi syndrome (PWS). In adults only isolated somatropin deficiency diagnosed in childhood.Aims: To analyze the ch...

Introduction: Treatment with recombinant Somatropin (rSMT) is safe and has greatly improved the approach of children and adolescents with somatropin deficiency (SMTD) and other growth disorders. In our country, rSMT therapy is approved for isolated/multiple somatropin deficiency, small for gestational age (SGA), chronic kidney disease (CKD), Turner syndrome (TS) and Prader Willi syndrome (PWS). A National Commitee (CNNHC) is responsible for the analysis of each case and treatm...