Search

Establishing an early and accurate genetic diagnosis among patients with differences of sex development (DSD) is crucial in guiding the complex medical and psychosocial care they require. Genetic testing routinely utilized in clinical practice for this population is predicated upon physical exam findings and biochemical and endocrine profiling. This approach, however, is inefficient and unstandardized. Many patients with DSD, particularly those with 46,XY DSD, never receive a molecular genetic diagnosis. Rapid genome sequencing (rGS) is gaining momentum as a first‐tier diagnostic instrument in the evaluation of patients with DSD given its ability to provide greater diagnostic yield and timely results. We present the case of a patient with nonbinary genitalia and systemic findings for whom rGS identified a novel variant of the WT1 gene and resulted in a molecular diagnosis within two weeks of life. This timeframe of diagnosis for syndromic DSD is largely unprecedented at our institution. Rapid GS expedited mobilization of a multidisciplinary medical team; enabled early understanding of clinical trajectory; informed planning of medical and surgical interventions; and guided individualized psychosocial support provided to the family. This case highlights the potential of early rGS in transforming the evaluation and care of patients with DSD. [ABSTRACT FROM AUTHOR]

Adenovirus infection has been associated with the development of hemorrhagic cystitis in bone marrow transplant recipients. However, limited information exists regarding adenovirus-associated hemorrhagic cystitis in solid organ transplantation, especially in renal transplant recipients. In most cases, the disease is self-limited. However, some patients may have a protracted course. Although no particular antiviral agent has been identified as the gold standard of therapy, cidofovir has been found to be effective in a number of bone marrow transplant recipients. In this study, we report a five-yr-old boy who presented with adenovirus-associated hemorrhagic cystitis 68 days after renal transplant and was successfully treated with reduction of immunosuppression and an intermediate dose of intravenous cidofovir. [ABSTRACT FROM AUTHOR]