ESPE Abstracts

A 5-year-old patient was brought by her parents toour pediatric endocrinology Outpatient clinic with history of progressive bilateral breast budding andenlargement since 3 months ago. . Her previous medical history were uneventful; there was no family history of precocious puberty. Parents were married, nonconsanguineous, she has 1 other sibling who is well . At presentation, our patient was a well looking girl, She had a full female phenotype: On initial physical examination ...

Glucose transporter 2(GLUT2), a transmembrane carrier protein that facilitates glucose movement across cell membranes, is an essential protein in carbohydrate metabolism. Mutation of SCL2A2 gene, which encodes this transporter, leads to a rare well- defined entity called glycogen storage disease type XI (GSD XI) also known as Fanconi Bickel syndrome. The result of this defect is hepatomegaly, proximal tubular dysfunction, fasting hypoglycemia, glucose intolerance, failure to t...

Pseudohypodosteronism type 1 (PHA-1) is an inherited disease caused by the resistance of peripheral tissues to aldosterone, leading to severe salt loss in infants. This rare disease is caused by mutations in the amiloride-sensitive epithelial sodium channel subunits (ENaCs). Loss-of-function mutations in ENaCs lead to PHA-1, which is associated with neonatal salt wasting. PHA1 can be transmitted as autosomal dominant and recessive forms. Patients with the autosomal dominant fo...

We report a large family with several cases of 46 XY and a new mutation in the 17-β-HSD3 gene.The proposita was an 11-year-old girl and the first child of a consanguineous family. She was born by cesarean section with a height of 52 cm and a weight of 4200 grams. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. Other physical examinations were n...

Background/aims: Obese girls experience precocious puberty which could influence their final height. We studied the effect of metformin on their body weight, final height, onset of menarche, and bone age.Methods: In a prospective study, 63 obese girls aged between 8 -13 years old were treated with metformin (500-1000 mg/daily and compared with control at the outpatient pediatric endocrine clinic of Loghman Hakim Hospital...

Background: Osteoporosis pseudoglioma syndrome (OPPG) characterized by congenital or early onset blindness with severe juvenile onset osteoporosis. OPPG is a rare autosomal recessive disorder due to loss of function mutation in the low-density lipoprotein receptor like protein 5 (LRP5).Methods: Two patients (siblings) underwent clinical examination, including a complete ophthalmic evaluation. Diagnosis of OPPG was based ...

Sick euthyroid syndrome (SES) is the most common endocrine disorder in critically ill patients. It has been shown that the decrease in T4 levels correlates with disease severity and prognosis. Whether SES is a compensatory response to the disease course or needs to be treated is not known yet. To our knowledge, there are only a few studies oncritically ill infants and children investigating the correlation between thyroid function and disease severity as well as its outcome. T...

Background: Phenylketonuria (PKU) is an autosomal recessive disorder that primarily affects the brain. Patients are at risk for intellectual disability, developmental disorder, hyperactivity, seizure, autism, and so on. The aim of this study was to compare the PKU phenotypes in Qazvin province, Iran before and after neonatal screening until 2017.Methods: All children with PKU (61 patients) in Qazvin province, Iran who had been diagnosed before a...

Background: Obesity is one of health problems worldwide. Acanthosis nigricans has been considered as a symptom of hyperinsulinemia in children.Objective and hypotheses: We designed this study to evaluate and compare clinical and laboratory findings in Iranian obese children with and without acanthosis nigricans.Material: Seventy-one obese children enrolled. Fasting blood sugar, total cholesterol, triglycerides, alanine aminotransfe...

Background: Prevalence of obesity and its complications including type 2 diabetes mellitus, impaired glucose tolerance and insulin resistance have been increased among children and adolescents during recent decades.Objective and hypotheses: The aim of this study was to determine the prevalence of impaired glucose tolerance and insulin resistance among overweight or obese children and adolescents.Method: This cross sectional study w...