ESPE Abstracts

Background: 4p duplication syndrome is a very rare chromosomal disorder. In the literature; dysmorphic facial features, learning disability, speech retardation, overgrowth, musculoskeletal abnormalities, attention deficit hyperactivity disorder and autism syndrome have been reported to be associated with 4p16.3 duplication. Here we present a patient who admitted to our clinic with complaints of growth in hands and feet along with delayed speech and mental retardation. The gene...

Aim: Premature pubarche is defined as the start of axillary and pubic hair before age 9 in boys and 8 in girls. 10 times more common in girls than boys. Central precocious puberty is a condition due to early activation of hypothalamic-pituitary- gonadal axis associated with breast development before age 8 in girls and testicular volume growth before age 9 in boys. Despite this axle is not known exactly which hormones are respnsible for the activation, the role of kisspeptin&#1...

Osteogenesis imperfecta is a heritable systemic disorder of bone and connective tissue. Acceptance of children and their family is associated with medical, growth, developmental conflicts, physical, social and emotional. The study about impact of OI in children’s quality of life is still limited. Aims is to analyze PedsQL score in OI children in Dr. Soetomo Hospital, Surabaya.Methode: This study is a cross sectional study held in pediatric endocrine...

Background: Ramadan fasting may influence metabolic control in Type 1 Diabetes Mellitus. Fructosamine is an accurate metabolic control in a short-term period. Comparison of fructosamine between intensive and conventional insulin regimen in T1DM children has not been widely studied.Objective: To compare fructosamine level between intensive and conventional insulin regimens during Ramadan Fasting in T1DM.Methods: Observational analyt...

Background: Type 1 Diabetes Mellitus children are at risk to suffer from thyroid dysfunction. The association between thyroid stimulating hormone and hemoglobin A1c is still controversy.Objective: To determine the association between thyroid stimulating hormone and hemoglobin A1c in type 1 Diabetes Mellitus children.Methods: We conducted a cross sectional study from January - June 2017 in pediatric endocrine outpatient clinic dr So...

Background: The aim of this study is to determine menstruating girls’ sectional characteristics and the frequency of the menstrual problems.Method: The study was done in randomly selected primary, junior and high schools at Kayseri Province between December 2014–March 2015. After obtaining the permits adolescent girls in 9–18 age groups were included in the study. Following preliminary information, informed consent forms and questionnaires...

Introduction: Congenital multiple pituitary hormone deficiency (CMPHD) is a clinical condition that manifests in the early years of life. In most cases, pituitary stalk interruption syndrome (PSIS) can be detected by MR imaging. The current study presents a case with a novel candidate pathogenic gene Semaphorin 3A (SEMA3A) in CMPHD by whole-exome sequencing (WES).Materials and Methods: Genomic DNA was extracted from the ...

Background: Monogenic forms of diabetes are still rare and not well understood. Their prevalence accounting for 1–4% of pediatric diabetes cases. Several genes encoding proteins important to β-cell function or regulation have been identified that lead to monogenic diabetes. However, awareness of these conditions may be lacking, and screening for them genetically is not routinely undertaken due to lack facility.Objective: To report a case diagno...

Background: Klinefelter Syndrome (KS) is the most common sex chromosome disorder in males caused by additional X chromosome. It is characterized by progressive testicular failure. KS patient usually have complete male sexual differentiation without genital ambiguity. The prevalence of KS is 1 in 660 males which only 10% are detected before or during puberty, and about two third so fall men with X-chromosome polyploidies fail to be identified during their lifetime.<p class=...

Background: An optimal vitamin D status is important for the growth and development of bones in children and adolescents. The prevalence of vitamin D deficiency is still high, even in low-latitude and industrialized countries, and vitamin D deficiency in childhood is reemerging as major public health issue.Objectives: To determine the frequencies of 25-hydroxyvitamin D (25(OH)D) deficiency and insufficiency in children and adolescents.<p class="abste...