Two sex chromatin positive phenotypic males were found to have 46, XX karyotypes. Both had small testes and elevated gonadotropins with low testosterone levels. Semen analysis could not be obtained but one man claimed to have a daughter. In one patient, mosaicism was suggested by the finding in a single cell of a chromosome morphologically resembling a Y. A second cell line was not found in the other patient. Possible explanations for the development of a male phenotype in the absence of demonstrable Y chromosome include the existence of two cell lines or mosaicism, an autosomal sex determining gene and the translocation of a fragment of the Y chromosome to another chromosome. It is possible that more than a single etiological mechanism accounts for the occurrence of this syndrome.
Rubio, G. R.; Weiss, Lester; Nunez, J. F.; and Saeed uz Zafar, M.
"Phenotypic Males with 46, XX Karyotype: Report of Two New Cases,"
Henry Ford Hospital Medical Journal
: Vol. 22
Available at: https://scholarlycommons.henryford.com/hfhmedjournal/vol22/iss1/4