Gonadal Dysgenesis (Turner's Syndrome) With Male Phenotype and Xo Chromosomal Constitution

Gonadal Histology in Patients With Male Pseudohermaphroditism and Atypical Gonadal Dysgenesis: Relation to Theories of Sex Differentiation

“…Table 2 lists 10 cases of this type. Two similar cases have been reported elsewhere (Bradbury 8c Bunge 1959;Bloise et al 1960). All of these patients had ambiguous, partially masculinized external genitalia with some phallic enlargement and partial labioscrotal fusion.…”

“…Four other patients with similar asymmetrical gonadal development (Cases 3, 5, 10 and 12) were found to have a somatic chromosome number of 46 with an XY sex chromosome complement, but the possible existence of mosaicism cannot be entirely excluded in these cases without chromosome analyses of cells from different tissue at multiple sites. The view that a proportion of cases within this group may be associated with chromosomal mosaicism of the XO/XY type is strengthened by the recent report of this finding in a »human intersex« by Hirschhorn et al (1960), and chromosomal studies interpreted as 45 (XO) in another case described by Bloise et al (1960).…”

Recent developments in human cytogenetics

“…Similar clinical abnormalities were present in two individuals who were reported to be XO from the analysis of cells from a skin biopsy in one case (Bloise, et al, 1960) and from bone marrow in the other . It is likely that both these individuals are XO/XY mosaics.…”

Male Pseudohermaphroditism with XO Chromosomal Constitution on Bone-marrow Cells

“…However, a case previously reported by us, in which one gonad was a testis and the other a " streak " commonly seen in Turner's syndrome, disclosed a 45/XO chromosome complement in bonemarrow cells (Bloise et a!l., 1960). Except for the "6streak," the case here reported is very similar and showed the same chromosome features.…”