|
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]
|
