Table 1 Milestones of 46,XX testicular DSD
Year | Viewpoints | References | |
|---|---|---|---|
1964 | 46,XX testicular DSD was first described. | Delachapelle et al. [1] | |
1992 | SRY-positive | The SRY gene plays a major role in encoding TDF and indicated that SRY-positive 46,XX males were infertile. | McElreavey et al. [4] |
2001; 2004 | SRY-negative | Hidden mosaicism was reported to cause TH in some 46,XX SRY-negative patients, but the results were differed. | Nieto et al. [14] |
Domenice et al. [15] | |||
2008; 2011 | Up/down regulation of the testis/ovarian signaling pathways was found. | Smith et al. [17] | |
Tomaselli et al. [18] | |||
2010–2013 | Described the function of the genes located downstream of the SRY gene. | DAX1, SOX9, SOX3, SOX10, ROCK1, DMRT | Mizuno et al. [13] |
Sukumaran et al. [23] | |||
Moalem et al. [24] | |||
Sutton et al. [25] | |||
Laronda et al. [26] | |||
Polanco et al. [27] |