Gonadal sex determination is a complex genetic process by which an embryonic primordium is driven to form an ovary or a testis, which requires a delicate dosage balance involving many genes. Disruption in this molecular pathway can lead to differences of sex development (DSD). Although some genetic mechanisms leading to 46,XY DSD have been elucidated, little is known about copy-number variation (CNV) causing testicular or ovotesticular 46,XX DSD. We describe a 20-year natural history of a man with SRY-negative 46,XX who was born with atypical male external genitalia, aortic coarctation, and bilateral blepharophimosis-ptosis. The molecular study identified a de novo heterozygous 3-Mb 15q26.2 deletion, a gene-poor locus containing NR2F2, which encodes the nuclear receptor COUP-TFII that is highly expressed in ovary and cardiac arteries. Immunohistochemistry confirmed the low COUP-TFII expression on his ovotestis tissue. Monosomy of 15q26.2, encompassing the NR2F2 gene, may act as a Z-factor regulating the male sex determination negatively. This finding supports a novel type of CNV resulting in DSD in an individual who developed male puberty spontaneously.

The MSCs were able to improve repair of the muscle layer and when injected intravenously, they were noted to initiate the neuronal regeneration process.

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Purpose: Conservative management has been largely used for renal trauma. Although this approach is safe and highly recommended, it can hide a pre-existing unknown condition, such as tumors or urinary malformations. A high index of suspicion is needed for early recognition of these conditions. We present four cases treated at the Pediatric Oncology Institute -Federal University of São Paulo, which have been initially treated conservatively for renal trauma. Materials and Methods:We reviewed all 218 renal cases of renal tumors treated at our institution in a 22-year period, searching for associated trauma events. Results: Four cases of renal tumors were initially treated conservatively for blunt renal trauma of low energy mechanism. Patients' ages ranged from 7 to 12 years old. Two patients had no previous symptoms, one patient had hematuria and another had an abdominal mass. Computerized Axial Tomography (CT) of the abdomen revealed disparate magnitude of the renal bleeding to the low energy mechanism of trauma. All patients underwent surgical treatment. Kidney specimens showed Wilms tumor in three cases and renal carcinoma in one. Conclusions:The association between renal tumors and trauma should be suspected when renal trauma hemorrhage on abdominal CT scan does not match the low energy mechanism of blunt abdominal trauma. The key for a successful diagnosis of renal tumor or congenital malformations is the high index of suspicion for these conditions.

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