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Table 1 Milestones of 46,XX testicular DSD

From: 46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature

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]