hrp0095p1-317 | Growth and Syndromes | ESPE2022

Effects of combined treatment with rhIGF-I and metreleptin in a girl with the severe insulin resistance Rabson-Mendenhall syndrom

Genthner N. , Rakicioglu H. , Karatsiolis P. , Wudy SA , Kamrath C.

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...

hrp0095p1-339 | Multisystem Endocrine Disorders | ESPE2022

Treatment-resistant hypokalemia and arterial hypertension: a prismatic case of low renin childhood hypertension

Rakicioglu H. , Kamrath C. , Genthner N. , Karatsiolis P. , Reincke M. , A. wudy S.

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...