ESPE Abstracts

Background: IGF1 measurements are used to diagnose and monitoring GH related disorders. GH dose is titrated against IGF1 concentrations which should be kept within the age-and sex-related normal range. However, IGF1 results vary widely depending on the immunoassay used. International guidelines advise to report IGF1 results as S.D. scores from an assay-specific age-related reference population.Objective and hypotheses: Our objective was to...

Background: The primary goal of treatment is to achieve a final height within the normal range and avoid the physical and psychological consequences of short stature (SS). If after a time, treatment efficacy criteria are not achieved, it is necessary to revalue its usefulness. There is no consensus about which conduct should be adopted in these cases. An alternative, is the suspension of rhGH treatment and evaluate the clinical and biochemical results to decide to continue or ...

Background: GH treatment requires regular, daily s.c. injections for very long periods of time when not virtually for a lifelong period. The mean final height attained with GH therapy is influenced by poor adherence to treatment.Objective and hypotheses: The main aim of this study was to identify non-adherent patients to GH therapy and to determine the influence of compliance in response to the treatment (IGF1 serum levels and growth velocity). We also e...

Background: Optimising adherence to treatment in paediatric patients is important, since non-adherence may lead to incorrect interpretation of growth results and in the treatment course. It has been found that injection frequency is correlated with growth response and final height among children treated with rhGH.Objective and hypotheses: The main aim of this study was to evaluate IGF1 levels and growth velocity before and after a medical intervention in...

Introduction: It is thought that sex hormone binding protein (SHBG) is involved in glucose homeostasis in addition to regulate the levels of sex hormones. Clinical studies associate reduced SHBG concentrations with insulin resistance (IR).Objective: To evaluate the relationship of SHBG with IR and hyperandrogenism markers in a group of adolescents affected with polycystic ovarian syndrome (PCOS), and how weight could affect these markers.<p class="ab...

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission. Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.Case presentation: An 18- days- old male infant, wi...

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

In 2009, the National Health Service of the Basque Country created a Gender Identity Reference Unit (GIU-BC) to cover the health needs of the transsexual population with a multidisciplinary assessment: Psychiatry, psychology, endocrinology, plastic and reconstructive surgery. Pediatric endocrinologists and pediatric psychiatry were included in 2013.Aim: To know the activity of Pediatric Endocrinology in the GIU-BC since 2013.<p class...