ESPE Abstracts

Back ground: The incidence rate of vitamin D deficiency is increasing throughout the world in recent years, but the rate of vitamin D deficiency in Japan is unknown.Aims: We measured the incidence rate of vitamin D deficiency in 12-year old children in Japan.Methods: A total of 492 children (247 boys and 245 girls) from one Japanese community enrolled in this study. At age 12, 25 hydroxyvitamin D (25OHD) were measured in all childr...

Summary: An 11 year old girl with poorly controlled type 1 diabetes mellitus (T1DM) presented with persistent lactic acidosis and transaminitis despite resolution of diabetic ketoacidosis (DKA), subsequently confirmed histologically to have glycogen hepatopathy (GH). This case describes a rare but known complication of poorly controlled DM and offers some novel insights in the management of GH.Clinical case: The patient had a history of poor compliance t...

We described a family in which MODY-GCK was detected in 6 people and its course varied.Materials and methods: The diagnosis of GCK-MODY was verified by the proband and his relatives on the basis of direct automatic sequencing and sequencing by Sanger.Results: Proband – a boy of 12 years, diabetes mellitus (DM) type 1 is diagnosed at the age of 11 years. He felt polydipsia, polyuria. Body weight was normal, he has not any disea...

Introduction: The incidence of type 1 and type 2 diabetes mellitus in children and adolescent has been on the rise for the last decades. While the reasons behind these are not known, one possible explanation for the emergence of type 2 diabetes in children is the increase of obesity and decreasing physical activity. Adolescents are at the cross roads between childhood and adulthood and that makes classification of their diabetes mellitus at presentation a diagnostic challenge....

Introduction: Central precocious puberty (CPP) at a very early age is usually caused by an organic lesion. The most common organic cause of CCP is the hypothalamic hamartoma (HH), which, associated with polysyndactyly, cleft palate and gelastic crises, clinically suggests the diagnosis of Pallister Hall Syndrome.Case: Infant 3-month-old woman with no family history. Polydactyly in hands and feet is evident from the second trimester of pregnancy. Born at ...

Presentation of case: A 3-year-old boy with central precocious puberty as a result of the organic lesion of brain (hamartoma of hypotalamus). Complains.Increased height velocity, masculinization, fast growth of external genitalia, frequent erections, acne, low voice. Medical history. The baby was born with weight 3400 g. The age of the mother at birth of the child was 23 years. The breast feeding 6 months. In the age of 24 months boy started to grow very fastly. In the age of ...

Background: Leydig cell tumor (LCT) is a rare testicular tumor developing from male gonadal interstitium and most common type of testicular sex cord-stromal tumor. Its incidence is about 1%–3% of all testicular neoplasms. In children only few cases had been reported and are associated with pseudo puberty.Case report: We report a case of a 4 years old boy admitted to our unit for management of precocious puberty which started one year ago with increa...

Background: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase. HPP is associated with significant morbidity and mortality in pediatric patients, with high rates as high as %100 in perinatal-onset HPP. Serum alkaline phosphatase (ALP) activity is markedly reduced, which leads to increased serum/urine phosphoethanolamine (PEA), pyridoxal-5’phosphate (PLP). Asfota...

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians.Objective and hypotheses: Explain clinical severity by a genetic background.Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (10° Cent), 12.5 kg (3–10° Cent); PH1B1. She showed typical ...

Background: Weight loss interventions for obesity have shown variable short-term effects in adolescents and children, but data on longer-term benefits are sparse.Aim: To describe longer-term impact of lifestyle weight loss interventions in adolescent obesity.Method: Obese subjects previously underwent lifestyle weight loss interventions at a hospital-based clinic were invited to participate in metabolic re-assessment. Outcome measu...