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Feminizing genitoplasty was performed as part of ventral clitorectomy with gonadectomy, and was put on hormone replacement therapy, as well as regular use of vaginal dilators to lengthen vaginal length. The Vibratory threshold measurement of clitoris determined by biothesiometer was back to normal 4 years after the surgery. When the presentation is later stage and has some vaginal coverage to work out with vaginal dilators, Vaginal corrective surgery is not required. Patients with PAIS are still needing regular psychiatric consultations and assistance in order to foster their understanding of gender identity and sexual orientation.
Source link: https://europepmc.org/article/MED/34907623
Background Androgen insensitivity syndrome is a rare X-linked genetic disorder that is one of the causes of the developmental disorder in 46,XY. Methods were performed to determine transcriptome variability in partial AIS patients and healthy controls, and peripheral blood mononuclear cells of partial AIS patients and healthy controls were isolated, and RNA-seq was carried out to determine transcriptome variation. Lastly, quantitative real-time PCR confirmed that differentially expressed genes of concern. By the main gene clusters of the PPI network and manual testing of tissue-specific gene expression, we finally filtered out CCR1, PPBP, PF4, CLU, KMT2D, GP6, and SPARC. These genes provide new insight into the onset of AIS in the immune system or metabolism of the immune system or metabolism, as well as potential molecular markers for clinical screening. The qRT-PCR results revealed a consistent trend in the expression levels of related genes between PAIS patients and healthy controls.
Source link: https://europepmc.org/article/MED/34867780
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