46,XX 69,XXX DIPLOID-TRIPLOID MIXOPLOIDY WITH HYPOTHYROIDISM AND PRECOCIOUS PUBERTY/

We report a 20 month old female patient with diploid-triploid mixoploi dy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture a nd comprised the majority (95%) of the cells. Chromosome analysis of t he fetal blood sample and peripheral blood sample were normal. The pat ient shows typical features of full triploidy (growth and severe menta l retardation, cranial and facial dysmorphism, complete syndactyly of fingers 3/4, partial syndactyly of toes 2/3) and facial but no body as ymmetry. At the age of 5 months central hypothyroidism and precocious puberty were diagnosed. Thin pigmented streaks were visible on the wri sts and legs of the patient at the age of 16 months. This is the first patient reported so far with 46,XX/69,XXX mixoploidy suffering from h ypothyroidism and precocious puberty.