We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (...

BackgroundThe gonadotropin-releasing hormone (GnRH) stimulation test is the gold standard for confirming activation of hypothalamic–pituitary–gonadal axis in central precocious puberty (CPP). However, it time-consuming and costly. Our aim was to search a simpler diagnostic modality CPP by 1) evaluating performance basal serum luteinizing (LH), 2) constructing practical scoring system, 3) determ...

BACKGROUND Precocious puberty (PP) is defined as the appearance of symptoms of puberty in girls before 8 years of age and in boys under 9. Statistically, it occurs much more frequently in girls, while it is a rare pathology in boys. MATERIAL/METHODS Over the period of 10 years, between 1999 and 2009, 39 girls and 17 boys aged 18 months - 9 years were diagnosed with precocious puberty,, and tr...