Endocrine Abstracts

49,XXXXY syndrome is a rare defect of sex chromosomes frequently labelled as Klinefelter variant. It is associated with more severe dysmorphic features, hypogenitalism and mental retardation.The goal: To describe clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY karyotype.Report of the patient: 12-month-old boy referred because of underdeveloped genitalia. The patient was born by ca...

Osteoporosis has a strong genetic component and is a common side-effect in patients with long-term glucocorticoid (GC) treatment. Vitamin D plays an important role in bone metabolism, and polymorphisms in its receptor (VDR) gene have been implicated in the pathogenesis of osteoporosis. On the other hand, variability in the sensitivity to GCs, due to polymorphic variants of the glucocorticoid receptor (GR) gene was observed in patients treated with GCs, both with regard to the ...

Peroxisome proliferator-activated receptors (PPARs) regulate adipocyte differentiation and gene expression by an interplay with other transcription factors. They are the nuclear receptor that are mostly expressed in adipocytes and some nonadipose tissues like intestinal wall, muscles, liver and macrophages. The aim of the study was to assess the possible association between Pro12Ala PPAR-gamma2 receptor gene polymorphism and satiety factors, insulin resistance and androgen exc...