نتایج جستجو برای: xx male
تعداد نتایج: 339463 فیلتر نتایج به سال:
Background and aims: <span style="color: #221e1f; font-family: Optima LT St...
Abstract The Y chromosome–linked gene sex-determining region (SRY) is believed to be the master initiator of male sex determination in almost all eutherian mammals, functioning upregulate expression its direct target SRY-related HMG box–containing 9 (SOX9). XX maleness humans a rare syndrome with frequency 1 20,000–25,000 males. Approximately 90% these cases carry some amount chromosome sequenc...
Contrary to the expected XX/XY sex chromosome complements in hermaphroditism, a variety of karyotypes have been reported instead. Dewhurst et al. (1965) summarized from published reports the karyotypic findings in 27 patients with convincing evidence ofhermaphroditism, as follows: 46,XX (17); 46,XY (2); 46,XX/47,XXX (1); 46,XX/46,XX + Frag (1); 46,XX/46,XY (3); 46,XX/47,XXY/ 49,XXYYY (1); 46,XX...
The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence absence SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome a chromosomal anomaly with makeup female (46, XX) and phenotypic presentation male. Previously known as XX sex reversal, it now called 46, testicular disorders sexual development (DSD). Although rare, presents...
Background and aims: <span style="color: #221e1f; font-family: Optima LT St...
The tra-2 gene of the nematode Caenorhabditis elegans encodes a predicted membrane protein, TRA-2A, that promotes XX hermaphrodite development. Genetic analysis suggests that tra-2 is a negative regulator of three genes that are required for male development: fem-1, fem-2, and fem-3. We report that the carboxy-terminal region of TRA-2A interacts specifically with FEM-3 in the yeast two-hybrid s...
46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a lit...
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