TRUE HERMAPHRODITES IN THE SOUTHEASTERN REGION OF BRAZIL - A DIFFERENT CYTOGENETIC AND GONADAL PROFILE

Sex ambiguity may be due to several disorders of gonadal differentiati on, including true hermaphroditism (TH), as well as male and female ps eudohermaphroditism. Although TH is a rare cause of intersex in Europe and North America, in Africa it presents one of the highest frequenci es, The 46,XX karyotype has :been found in the majority of the reporte d patients (70.6%), and aberrations in the sex chromosomes have been o bserved in about 22% of the cases. The 46,XY karyotype has been descri bed as less frequent. Herein we describe ten cases of TH which have be en diagnosed over the last 7 years, six lateral TH, two unilateral TH, and two cases of ovotestes with absent contralateral gonad. From a to tal of 18 gonads analyzed, there were 8 testes, 6 ovaries and 4 ovotes tes. Nine subjects had originally a male sex assignment, and in three cases this was reverted to female. Four cases had a 46,XY karyotype, A dditional sex chromosome aberrations had been found in four different cases [two 46,XX/46,XY, one 45,X/47,XYY, one 46,X,del(Yq)], A 46,XX ka ryotype was found in only two individuals, and both were SRY negative. Our preliminary data, especially on the constitution of chromosomes a nd gonads, indicate marked differences from those in the literature.