hrp0095p2-82 | Diabetes and Insulin | ESPE2022

An unusual combination: Wolfram Syndrome Type 1 with type-1-Diabetes mellitus

Karatsiolis Platonas , Kamrath Clemens , Rakicioglu Hande , A. Wudy Stefan

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...

hrp0094p2-107 | Diabetes and insulin | ESPE2021

A paradoxical conundrum: diabetic ketoacidosis resulting in treatment-resistant hypokalemic alkalosis

Rakicioglu Hande , Kamrath Clemens , Karatsiolis Platonas , Genthner Nora , Wudy Stefan ,

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...

hrp0094p2-326 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Differential diagnosis of pre- and postnatal short stature revisited: 3-M syndrome

Karatsiolis Platonas , Kamrath Clemens , Rakicioglu Hande , Wudy Stefan ,

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...

hrp0097p1-435 | Diabetes and Insulin | ESPE2023

Management of severe diabetic ketoacidosis with extremely high doses of insulin in a girl with severe insulin resistance syndrome due to compound heterozygous mutations in the insulin receptor gene

Kamrath Clemens , Genthner Nora , Rakicioglu Hande , Wudy Stefan

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...