ESPE Abstracts

Wolfram Syndrome Type 1 also known as DIDMOAD syndrome is an autosomal recessive genetic disorder, characterized by major criteria diabetes mellitus and optic atrophy under the age of 16, as well as minor criteria diabetes insipidous, optic atrophy and diabetes mellitus over the age of 16 years deafness, neurological signs, renal tract structural or function abnormalities, loss of function mutation in WFS1 or CISD2 gene and or family with Wolfram syndrome. Other features could...

Background: Correct classification of diabetes mellitus in children and adolescents is essential for appropriate treatment.Case report: A 17 year old female adolescent was referred to our clinic due to hyperglycemia. She complained of dizziness and nausea. Her blood pressure was 160 /100 mmHg; she had hyperglycemia ( 208 mg/dl), a glycosuria and a ketonuria without ketoacidosis. Some members of the family were on insulin...

Background: Correct diagnosis of the etiology of adrenal deficiencies is essential for appropriate treatment.Case report: At the 12th day of life, the girl had suffered an episode of severe salt wasting with marked hyponatremia (109 mmol/l) and hyperkalemia (6.9 mmol/l). Under the assumption of adrenal insufficiency therapy with hydrocortisone and fludrocortisone as well as salt had been started. Unfortunately...

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

Background: One major issue of newborn screening programs for 21-hydroxylase deficiency (21OHD) is the high rate of false-positive results, especially in preterm neonates. Urinary steroid analysis using gas chromatography–mass spectrometry (GC–MS) is used as a confirmatory diagnostic tool.Objective and Hypotheses: The objective of this study was to analyze diagnostic metabolite ratios in neonates and infants with and without 21OHD using GC&#150...

From time to time pediatric endocrinologists may be confronted with paradoxical constellations. Here, we report on a 13-year-old boy with type-1 diabetes. He had polyuria and polydipsia for the previous 2 weeks. Three days before presentation, he got increasingly exhausted and developed recurrent vomiting. At presentation his weight was 41,4 kg (P 25-50) and his height was 154 cm (P 25-50). Initial labs were HbA1c 10.2%, glucose 530 mg/dl, pH 7.15, base excess - 21.1 mmol/l, b...

Introduction: The 3 M- syndrome is a rare autosomal recessive disease, which was named after the three first authors Miller, McKusick and Malvaux. It is characterized by pre- and postnatal disproportionate short stature with micromelia, relative macrocephaly, and radiological bone dysmorphism. It is based on a mutation in one of the three genes CUL7, OBSL1 or CCDC8.Methodology: We report on a meanwhile 4 4/12- year- old girl who presente...

We report a girl born small for gestational age with a birth weight of 1970g. At the age of 2 years she developed marked dystrophy, height was -4.39 SDS and BMI was -3.1 SDS. Later she developed severe insulin restistance and hyperglycaemia due to compound heterozygous mutations in the insulin receptor gene: exon 16: c.2986A>G (paternal) and intron 9: c.2029+1G>T (maternal). Clinical findings included severe acanthosis nigricans, mild hypertrophic cardiomyopathy, abnorma...

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Background: In type 1 diabetes (T1D), optimal glycaemic control requires intensive self-management to reduce the risk of complications. While routine downloading and review of blood glucose data is part of clinical practice of healthcare providers in an outpatient setting, patients and families are also educated, advised and encouraged to regularly download and review blood glucose data at home in order to make adjustments to insulin dosing for carbohydrate in...