ESPE Abstracts

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent several types of malformations with occurrence of 1 in about 500 live births.Objective and hypotheses: Small for gestation age (SGA) may influence prevalence of CAKUT and progression of chronic kidney disease (CKD) in children. The aim of this study was to elaborate prevalence, clinical features and outcome of SGA born children with associated CAKUT....

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adults’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

Background: In humans, loss-of-function mutations in Nicotinamide nucleotide transhydrogenase (NNT) cause familial glucocorticoid deficiency, a potentially fatal, adrenal-specific disorder characterized by increased ACTH and reduced cortisol levels. NNT is a highly conserved inner mitochondrial membrane protein, which supplies high concentrations of NADPH for detoxification of reactive oxygen species (ROS) by glutathione and thioredoxin pathways.<p class="abstext"...

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: Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary for the oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans; it is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. To date, 9 cases have been described in the lit...

We present a 10 years old boy, born from normal pregnancy, weght 3300 gr, lenght 51 cm. Normal motor and intellectual development. Family history for short stature - mother's height 150.3 cm (P2), target height 174.3 cm (P37). At 7 years of age the patient's height was 108.9 cm (- 2.4 SD) - below the target range. Bone age was delayed with more than -2 SD. Two stimulation tests for growth hormone (GH) assessment have been performed (with insulin and glucagon) –...

Introduction: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disease that caused by mutations in the vitamin D receptor (VDR) gene. Hypocalcemia, high alkaline phosphatase, secondary hyperparathyroidism, high 1.25-OH vitamin D (1.25-OHD) levels despite normal 25-OH vitamin D (25-OHD) levels are diagnostic. The clinical signs are rickets, short stature, recurrent lung infections and total/subtotal alopecia. Here, we present a case of...

Background: The gastrointestinal (GI) tract plays a central role in maintaining energy balance and body weight regulation. These functions are mediated by the secretion of gut hormones, including ghrelin, cholecystokinin (CCK), peptide YY(PYY), oxyntomodulin (OXM) and many other hormones. Some of them are orexigenic hormones that promote food intake, while others act as satiety signals and enhance insulin secretion from the pancreatic beta cells. Current evide...

Introduction: Growth hormone (GH) exerts its effect through insulin-like growth factor 1 (IGF-I), an intracellular signalling molecule whose production is stimulated by STAT-5b after binding to the growth hormone receptor. STAT-5b deficiency, is characterized by short stature, immune dysregulation and chronic lung disease. And these occur as a result of disruption of the growth hormone axis. Our case is an example of STAT-5b gene mutation, which is a rare dise...