ESPE Abstracts

Introduction: Immunodysregulation polyendocrinopathy enteropathy x-linked syndrome (IPEX) is characterized by systemic autoimmunity, typically beginning in the first year of life. Most commonly triad of symptoms of diarrhea, dermatitis and endocrinopathy is present.Case report: Presentatlion of male patient, born with body weight 3840 grams and 10 points in Apgar scale. In 13th day of life vomitting and tachypnoe were noted and in laboratory tests hyperg...

Turner syndrome is associated with insulin resistance, increased incidence of type II diabetes, and hypertension, all of which are cardiovascular risk factors. The purpose of this study was to evaluate the lipid profile of Chinese girls with untreated Turner syndrome, (aged 2 to 15 years; 50.9% 45,XO) and age-matched, normal girls. A total of 108 girls with Turner syndrome and 99 normal girls had lipid profile measurements, including cholesterol, triglycerides,high-density lip...

Introduction: Alstrom syndrome is an autosomal recessive genetic disorder with mutation in the ALMS 2p12-13 gene and its characteristic features are: pigmented retinopathy, deafness, growth deficiency, obesity, metabolic syndrome, diabetes, thyroid dysfunction, nephropathy and cardiomyopathy.Aim of the study: Evaluation of anthropometric parameters, thyroid function, carbohydrate metabolism and lipid profile in five patients with diagnosed Alstrom syndro...

Objectives: To summarize the diagnosis and treatment course of hyperkalemia in twins, review the diagnosis approach of hyperkalemia in neonate and guide clinical practice.Methods: The clinical manifestation, laboratory examination, the course of diagnosis and treatment of the two cases were summarized.Results: A pair of twin girls, 38 days after birth, came to our department because of ‘Hyperkalemia more than one month’. ...

Objectives: To investigate the effect of Letrozole on the reproductive function and linear growth in adolescent boys.Methods: 43 early and middle pubertal boy with seriously damaged predicted adult height(PAH), treated with letrozole 1.5mg/m2/d Po(≯2.5mg/d) with a duration of 3-18 months were enrolled as Short-, medium- and long- treatment group with letrozole of 3-6, 6-12, 12-18 months, respectively. 48 healthy pubertal boys were enrolled as control...

Common cause of hypopituitarism is congenital, genetically determined abnormality called pituitary stalk interruption syndrome (PSIS). It is characterised by hypoplastic anterior pituitary gland with thin or absent infundibulum and ectopic posterior pituitary location in MRI examination. Post-traumatic hypopituitarism may mimic this image. We present 7 years and 10 months old girl who was admitted to Pediatrics Institute due to hypoglycemia during an acute gastroenteritis. Hyp...

Background: Risk of developing germ cell tumors (GCTs) in disorders of sex development (DSD) patients with karyotypes contain Y-chromosome or it’s material (Y) increase with age. The appropriate timing for prophylactic gonadectomy in these patients is still controversial.Aim: To analyze the gonadal tumor incidence and histological assessment of gonads in DSD (Y) patients who were treated in a single institution between 1997 and 03/2018.<p class=...

Background: CYP27B1 converts 25-hydroxyvitamin D3 to active 1,25-dihydroxyvitamin D3, playing a vital role in calcium homeostasis and bone growth. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1.Objective and hypotheses: Enzymatic and structural analysis of mutations in a patient with calcipenic rickets.Method: Two siblings presented with calcip...

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disease caused by inactivating mutation in the CYP11B2 gene, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. ASD is unable to be detected by Neonatal screening of 17-hydroxyprogesterone, hence patients would not be diagnosed until they suffer from salt-wasting crisis. Due to this potentially life-threatening risk, early detection and...

Objective: To assess the serum levels of IL-6, TNF-a and Omentin-1 in girls with Turner Syndrome (TS) and to analyze their association with FPG, FINS, TC, TG, HDL-c, LDL-c, and BMISDS.Methods: In total of 33 TS girls aged (12.8±3.9) yr and 33 age-matched normal girls aged (12.6±3.7) yr were recruited in the study. Height (Ht) and Weight (Wt) were measured; FPG, FINS, TC, TG, HDL-c, LDL-c, IGF-1 and E2 were also measured; BMI and BMISDS were cal...