ESPE Abstracts

Kenny-Caffey syndrome type 2 (KCS 2) is an extremely rare autosomal dominant genetic disorder characterized by proportionate short stature, hypoparathyroidism, skeletal dysplasia and facial deformities. It is caused by variants in FAM111A gene. The clinical manifestations of KCS2 are atypical and diverse. We present two cases with KCS 2 with short stature, skeletal deformities and eye abnormalities confirmed by genetic analysis. The first patient came to our hospital ...

Pheochromocytoma (PCC) is a rare tumor arising from the adrenal medulla as well as extra-adrenal paraganglion system and secreting catecholamines causing severe hypertension in children. The gold standard for diagnosis is the measurement of free plasma levels of metanephrines while management evaluates the location and size of the tumor and possible metastatic lesions. Preoperative treatment with alpha blockers, beta blockers and tyrosine hydroxylase inhibitors improves safety...

Keywords: recombinant human growth hormone (rhGH), growth hormone deficiency (GHD), short statureBackground: Recombinant growth hormone is used for the treatment of growth hormone deficiency. In children treated early, catch-up growth is excellent, with a normal final height. A final height gain of 30 cm can be expected on average. However, it has long been recognized that there is variability in the magnitude of individ...