ESPE Abstracts

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene has been found mutated for the first time in 5 families with familial precocious puberty. The inheritance pattern is particular being the MKRN3 a maternal imprinted gene. Moreover in a recent genome wide association study common intronic or intragenic variants harbouring this gene and other two imprinted genes, D...

Background: Individuals with classic congenital adrenal hyperplasia (CAH) are treated postnatally with glucocorticoids. Earlier research with animals and other disorders with excess GC exposure implicate that GCs can influence memory. Deficits in working memory can be seen already during childhood in children with classic CAH.Objective: We tested the hypothesis that adult individuals with classic CAH show impaired cognitive functions.<p class="abstex...

Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and Neural tumor (ROHHADNET) is a rare condition. The first symptom is the appearance of rapid onset obesity (2–4 years) followed by central hypoventilation, hypothalamic dysfunction, dysautonomic symptoms and neural tumors.Objective and hypotheses: Aim of this study was to evaluate adrenal function in ROHHADNET patients from a single-center.<...

Background: Hyperandrogenism in children is associated with excessive adrenal or gonadal androgens secretion. The most common causes of androgens hypersecretion are PCOS, adrenal tumors, Cushing’s syndrome, CAH, and gonadal virilizing tumors. Within the last 15 years single case-reports of hyperandrogenism in female patients with congenital porto-systemic shunts were described in literature. The mechanism of such coincidence is unknown but the role of hyperinsulinism, imp...

Background: DAX-1 (NR0B1) plays a key role in adrenal and reproductive development. It interacts with other nuclear receptors; however, its exact biological role remains unclear. In men most patients with X-linked adrenal hypoplasia congenita (AHC) present with acute adrenal failure. To date DAX-1 mutations have been found in more than 100 families or patients with X-linked AHC.Results: We report the case of a 2.5-year-old boy who presented with a histor...

Background: Dystrophinopathies, including Duchenne (DMD) and Becker (BMD) muscular dystrophy, are X-linked muscle wasting disorders caused by mutations in the dystrophin gene. Dystrophin deficiency compromises functional integrity of the muscle fibers leading to progressive weakness, accompanied by a gradual bone loss.Objective and hypotheses: This study’s goal was to evaluate the effect of whole body low magnitude vibration (WBLMV) on timed motor p...

Background: Children at type 1 diabetes (T1DM) diagnosis can develop ketoacidosis (DKA), a life-threatening condition, which is most frequently associated with the onset of diabetes in children aged <5 years.Aims and objectives: We studied the prevalence of DKA at T1DM diagnosis and the frequency of partial remission (PR) in children from Wielkopolska province, Poland.Method: The cohort comprised 735 children aged 0–18 yea...

Background: Few data exist for young children regarding the proper site for insulin catheter insertion for pump (CSII) users.Objective and hypotheses: To evaluate the proper site for catheter insertion in very young children (<8 year old) with T1D and CSII.Method: The study comprised 10 children [7 females, median age 4.43 years (range 2.3–7.18), median disease duration 1.65 years] with T1D who were on CSII. Ultrasound mea...

Background: Present knowledge on the effects of growth hormone (GH) on aging and lifespan are controversial. Clinical data indicate that normal or high levels of GH may accelerate aging and increase the risk of cardio-vascular diseases. Very small embryonic-like stem cells (VSELs) are a population of developmentally early stem cells residing in adult tissues, which could have the potential role in aging and organ rejuvenation.Objective: The aim of the st...

Background: IGF1R mutations are characterized by IGF-1 resistance causing impaired fetal and postnatal growth. Several reports in children with heterozygous defects of IGF1R have demonstrated a variable phenotype, which can be associated to microcephaly, dismorphic features and mild developmental delay.Case presentation: We report of an 8-years-old boy, who came at our observation with short stature (−3.2 SDS) and mild microcephal...