RESUMO
46, XX male (de la Chapelle syndrome) is a rare syndrome with a frequency of 1 in 20,000-25,000 males. 46, XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinisation. We herein report a case of SRY-negative XX male with complete masculinisation but with infertility, and co-existing with autoimmune thyroiditis. The patient had fully mature male genitalia with descended but small testes and no signs of undervirilisation. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Repeat polymerase chain reaction analysis, using Y-specific sequence tagged sites analysing about 40 metaphases of genomic DNA, confirmed the absence of the Y chromosome, including any detectable SRY gene. We herein report a case of a man 46, XX male SRY with normal male phenotype and infertility. This case is the first reported case, co-existing with chronic autoimmune thyroiditis.
