ESPE Abstracts

Introduction: Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder characterized by, axial hypotonia, weakness, and severe intellectual disability1 Allan-Herndon-Dudley syndrome is caused by mutations in the SLC16A2 gene (also known as MCT8) This gene is located on the chromosome Xq13.2, mutations of the SLC16A2 gene lead to impaired making a protein that transports thyroid hormone triiodothyronine (T3) into nerve cells, for this re...

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...

Background: Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations in the WFS1 gene. The WFS1 gene is active in cells of body, with highly expression in the, brain, lungs, heart, inner ear, and pancreas. Within cells, WFS1 gene encodes wolframin protein that is located in a structure of endoplasmic reticulum. Endoplasmic reticulum has critical role in protein folding and material transportation within the cell o...

The pituitary gland is a pea-sized organ located at the base of the brain. It synthesizes, and secretes, many hormones that control growth and development, and the functioning of the other endocrine glands. Panhypopituitarism is a condition of inadequate or absent production of all these hormones. LHX3 (LIM Homeobox 3) is a Protein-Coding gene involved in pituitary development. Mutations in this gene may result in a deficiency of multiple pituitary hormones. Here, we present a...

Background: Generalized joint hypermobility is quite common and seems to be a risk factor for low bone density.Objective: The goal of this study was to determine the bone mineral density in adolescents with hypermobility syndrome.Materials and methods: In a cross-sectional study, we measured the bone mineral density (BMD) and bone mineral apparent density (BMAD) of 32 children, 13 to 18 years old with benign hypermobility syndrome ...

Background: Constitutional delay of growth and puberty (CDGP) is one of the most common problems of pediatrics. It causes a lot of psychological and social disorders in families. Currently there are a variety of therapies including administration of testosterone enantate, oxandrolone and growth hormone.Objective: The aim of this study, which has been performed as the first in Iran and the second in the world, is the comparison between effects of oral iro...

A 7 year old girl presented with breast development, mood changes and rapid growth spurt from 6.5 years. Clinically she was tall for her family and had Tanner stage 2 breast development and pubic hair. Bone age was 3 years advanced and pelvic ultrasound demonstrated globular anteverted uterus with endometrial lining and enlargement of the ovaries with follicles. LHRH test confirmed central precocious puberty with peak LH 44mIU/ml and FSH 19mIU/ml, with baseline estradiol of 92...

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: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies, affecting 5–10% of population. Insulin resistance, apolipoprotein B:apolipoprotein A1 ratio, and BMI commonly increases in obese PCOS patients and are among the indicators of the disease. On the other hand, metformin and cinnamon are generally believed to control these.Objective and hypotheses: To compare the effects of cinnamon with those of the metformin on in...