ESPE Abstracts

Background: Gender assignment in children with disorder of sex development (DSD) is a key step in their management and needs detailed assessment. In developing countries, children with DSD are often presented late, due to lack of awareness and social stigmatization, which makes management more challenging.Methodology: Retrospective review of complex DSD cases (karyotyping different from current sex of rearing), presented...

Background: It is widely assumed that short stature can result in psychological, social, and physical problems. The validity and efficacy of GH in management of short stature is still debated.Aims: This study aimed to i) estimate the prevalence of short stature in preschool children (4–6 years), and determine the final diagnosis of abnormality based on different investigations, and ii) assess the impact of intervention for short stature among presch...

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: Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder, due to mutations in the leukemia inhibitory factor receptor (LIFR) gene. It is characterized by bowed-long bones, joint restrictions, dysautonomia, respiratory and feeding difficulties leading to death during infancy. In SWS survivors beyond 2 years of age, orthopedic problems are the main concern e.g. spinal deformations, osteoporosis and recurrent spontaneous fra...

Introduction: Chronic pancreatitis is defined as recurrent or persistent pancreatitis, which will result in irreversible morphological change in pancreatic structure leading to pancreatic exocrine and endocrine insufficiency. ICCP is a rare condition and only few cases in adults have been reported in Sri Lanka. Prevalence of ICCP is highly variable in Asian and western countries. We present a rare case of FCPD in a 9 a years old boy.<str...

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: Hereditary vitamin D resistant rickets (HVDRR) or vitamin-D dependent rickets type II is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene, causing end-organ resistance to the action of 1,25-dihydroxyvitamin D (calcitriol), thus resulting in the distinct characteristics of early-onset rickets, hypocalcemia, and secondary hyperparathyroidism. The currently accepted treatment modality is bypassing the affected r...