ESPE Abstracts

Background: Severe short stature is considered when height falls below −4 SDS. When infants with extreme short stature are evaluated, often multidisciplinary input is required, before a formal diagnosis is met.Objective and hypotheses: We want to learn from delayed diagnosis of child with panhypopituitarism and review subsequent difficulties in starting GH treatment.Method: Retrospective review of notes, investigations and pa...

Background: Diencephalic syndrome (DS), diencephalic cachexia or Russell syndrome, is a rare, rapidly fatal condition, usually occurring during the first year of life, as a result of a hypothalamic dysfunction due to hypothalamic/chiasmatic tumors. Clinical features of DS are weight loss leading to cachexia despite a normal caloric intake and growth rate, hyperalertness, hyperkinesis, and euphoria. Treatment is related to treatment of the hypothalamic lesion. The role of cytok...

Background: The normal recovery of the hypothalamic–pituitary–gonadal axis after discontinuation of therapy with GNRH analogue for precocious puberty has been proven and documented in the last decades. There has been no report in the literature of patients in which a history of GNRH treatment of precocious puberty is correlated with premature ovarian failure.Objective and hypotheses: The aim of the authors is to evaluate the possibility of a co...

Background: The nutritional and hormonal state in utero may be a link between maternal obesity and obesity in the offspring. The gene expression in placentae in pregnancies complicated by diabetes is reduced for leptin, but increased for ghrelin. It is not known whether these genes’ expressions in placentae are altered in maternal obesity.Objectives and hypotheses: To compare obese and normal-weight women and their children concerning gene ...

Background: Graves’ disease (GD) is the most common cause of hyperthyroidism in the pediatric population. T helper 17 (Th17) IL-17A+CD3+CD4+ cells represent a novel subset of T helper cells that play an active role in inflammatory and autoimmune diseases. Although methimazole (MMI) lowers the levels of thyroid autoantibodies, little is still known about its influence on cell-mediated immune response. The role of Th17 cells in GD pathogenesis remains uncertain and the impa...

Background: Hypoparathyroidism (HPT) is present in 80% of patients with Autoimmune Polyendocrinopathy Syndrome type 1 (APS-1) – rare monogenic complex disease characterized also by adrenal failure, chronic candidiasis and a spectrum of other autoimmune disorders, including enteropathy and malabsorbtion. Active vitamin D and calcium are currently used for HPT treatment to maintain normal serum calcium levels.Objective and hypotheses: To describe a se...

Background: Generalised glucocorticoid resistance (Chrousos syndrome) is a rare inherited disease characterized by tissue insensitivity to glucocorticoids and associated with defects in human glucocorticoid receptor (hGR) gene (NR3C1, 138040). Despite of elevated serum and urine cortisol the patients do not develop clinical picture of Cushing syndrome but present with hyperandrogenia and hypertension.Case presentation: We present a case in which clinical...

Background: This is a case of an 18 year old phenotypic female of Bolivian origin with a 46,XY karyotype, uterus and menstruation with estrogen replacement. She was initially diagnosed with androgen insensitivity based on Leuprolide and HCG stimulation testing results. With menstruation, other etiologies are being considered.Case presentation: She presented with clitoromegaly and moderate posterior labial fusion (Prader III). Laboratory evaluation at 6&#...

Background: Uric acid and Triglycerides/HDL ratio are an important risk factor for cardiovascular diseases.Aim: To investigate how Triglycerides/HDL ratio and uric acid are correlated with children’s biochemical and anthropometric characteristics, depending on the predisposition for metabolic syndrome (MetSyn).Methods: 110 students, 6–12 years old, living in Sparta-Greece, participated in our research. Anthropometric and ...

Background: Sleep is a complex and essential biological process that is required on a daily basis for all humans, playing a vital role in the maintenance of the homeostasis in short and long term.Aims and objectives: To investigate the role of sleep hours in correlation with risk factors for metabolic disorders in a children population.Methods: The program was implemented in 949 children (5–12 years old) living in Sparta-Greec...