Endocrine Abstracts

Introduction: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is the most common type of NF and one of the most frequent human genetic diseases. Gynaecomastia due to pseudoangiomatous stromal hyperplasia (PASH) in patients with NF1 is quite a rare complication but still it should be differentiated from gynecomastia caused by other conditions.Clinical case: A 30-year-old man, previously diagnosed with NF1 at the age of 19,...

Background: Secondary hyperparathyroidism (SHPT) is an adaptive process that develops in response to declining kidney function, impaired phosphate excretion, and failure to bioactivate vitamin D. The signal transduction via the calcium-sensing receptor (CaSR) is a key determinant of parathyroid gland hyperplasia.Aims: To examine the polymorphisms rs1801725 (p.Ala986Ser, G>T), rs1042636 (p.Arg990Gly, A>G), rs1801726 (p.Glu1021Gln, G>C) of ...