ESPE Abstracts

Background: Good glycemic control prevents long-term complications of microvascular and macrovascular diseases in type 1 diabetes (T1DM).We aimed to investigate whether our patients had A1c values <7.5% as recommended by ISPAD and how therapy modality, duration of diabetes and pubertal status affected the metabolic control of our patients. We also set out to compare our quality of care with our results of 2008 and with other publ...

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

Introduction: Gonadotoxicity associated with chemotherapy of hematologic malignancies has been described mainly in adults, focused on the sensitivity of germ cells. Little attention has been placed on Sertoli cells during childhood and puberty, even though Sertoli cell development is essential for adult spermatogenesis.Objective: To assess function of the pituitary-testicular axis, with emphasis on Sertoli cell function,...

Central precocious puberty (CPP) is effectively treated by inhibition of GnRH signaling through GnRH receptor desensitization with depot GnRH agonists (dGnRHa), but the first injection is associated with a surge in LH and FSH (flare) that proportionally increases estradiol levels. When estradiol levels drop, usually within a fortnight, vaginal bleeding may be seen in a small number of girls. Although dGnRHa that use higher, longer-acting doses are increasingly being used in gi...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

Background: The human growth pattern varies from intrauterine to extrauterine life, with the GH-IGF axis being immature at birth and IGF-I assuming an important role in promoting postnatal growth. The actions of IGF-I are modulated by its interactions with IGFBPs, with this interaction being regulated by pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2), and thus modifying the amount of free IGF-I.Objective:</strong...

Background: Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of the pituitary stalk, pituitary hypoplasia and an ectopic posterior pituitary.Objective: We aimed to retrospectively analyze the clinical, auxological, biochemical, and radiological findings in Spanish patients with PSIS.Patients and results: Of 27 patients, 25% were female and 75% male. Perinatal features, auxological and endocrine study at ...

Background: A twin pregnancy with a coexisting complete hydatiform mole and a healthy fetus is rare, with an incidence of 1 in 22.000-100.000 pregnancies. Associated with this condition are potencially serious maternal and fetal complications.Case Report: A 32 year old pregnant woman presented with clinical features of hyperthyroidism, confirmed by laboratory. An ultrasound scan revealed a complete hydatiform mole (CHM) ...

The prevalence of metabolic syndrome (MetS) in young population continues to rise. Obesity is a chronic inflammatory disorder in which leptin, adiponectin and C reactive protein (CRP) play an important role. This study aimed to determine whether these adipokines are significant markers in defining MetS in pediatric population and to assess the effect of hypocaloric diet and physical activity on serum concentrations of adiponectine, leptin, and high sensitivity CRP (hs-CRP).</p...