They have not been reported yet in relation to TGCT; but as the ATRX syndrome, caused by ATRX mutations, involves apart from thalassemia and mental retardation also gonadal dysgenesis of various degree, in extreme cases even male to female sex reversal [43], and as the testicular dysgenesis syndrome is the common precursor condition in TGCT, it supports its probable functional role in TGCT development. This evidence concerns the gene ATRX and alpha thalassemia-X-linked intellectual disability syndrome.