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We have previously reported global gene expression profiles in genital-derived fibroblasts that differ between 46, XY males and 46, XY females with complete androgen sensitization syndrome due to inactivating mutations of the androgen receptor. The scrotum in normal virilized 46, XY males and the labia majora were identical in uterine, thereby reducing the impact of topology. The scrotum in normally virilized 46, XY males and the labia majora were derived from identical urogenital anlagen. While some genes related to those we had previously found, a significant number did not, indicating that topology had influenced gene expression in our previous experiments. The new, topology controlled data set correctly classified the specimens, according to the new, topology controlled clustering of gene expression data derived from a large number of fibroblast cultures from individuals with partial AIS.
Source link: https://doi.org/10.1186/1471-2164-8-376
BackgroundAndrogen insensitivity syndrome is a rare X-linked genetic disorder that is also responsible for a 46,XY disorder of sexual development. paraphrasedoutput:MethodsPeripheral blood mononuclear cells of partial AIS patients and healthy controls were separated, but transcriptome variability was determined by RNA-seq to determine transcriptome variation. We finally filtered out CCR1, PPBP, PF4, CLU, KMT2D, GP6, and SPARC by the key gene clusters of the PPI network, as well as manual gene expression by tissue-specific gene expression. Conclusions: The qRT-PCR results showed a consistent pattern in the expression levels of related genes between PAIS patients and healthy controls, supporting future targets for diagnosis and follow-up.
Source link: https://doi.org/10.3389/fendo.2021.731107
It is believed to be due to a temporary imbalance in testosterone and estradiol in the early stages of puberty. We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome, clinical hormone findings, and a novel mutation in the androgen receptor gene.
Source link: https://doi.org/10.1530/EDM-18-0128
Abstract: Attenuated responsiveness to androgens, androgen receptor gene mutations on the code regions and their splice sites have only been found in fewer than 25% of patients with a diagnosis of PAIS. In addition, the bulk of the aberrant mRNA was shown to undergo nonsense-mediated decay, and, if a small amount of aberrant mRNA had escaped NMD, such mRNA was expected to produce a truncated AR protein lacking some functional domains.
Source link: https://doi.org/10.1038/s41598-018-20691-9
Abstract Background The androgen insensitivity syndrome can lead to developmental difficulties in people with a 46,XY karyotype. Results of an investigation The discovery of genetic abnormalities in the androgen receptor gene in people of a Brazilian family with clinical signs of severe partial androgen insensitivity syndrome were determined. Endnotes The novel p. L830F mutation is responsible for grades 5 and 6 of partial androgen allergy syndrome in two generations of a Brazilian family's two generations.
Source link: https://doi.org/10.1186/1756-0500-4-173
We investigated whether external masculinisation score at birth or functional assays correlates with pubertal success in PAIS patients and whether the EMS is helpful in sex assignment. Only 6/9 patients with EMS 5 underwent spontaneous puberty, against all 18 patients with EMS u22655. Compared to 11/13 with EMS u22655, only 1/6 patients with EMS 5 established adult genitalia, Tanner stage 4 or 5, versus 11/13 with EMS u22655. There was no significant difference between the two groups of patients receiving prescription androgen replacement, who attained adult testicular height of u2265 15 ml, pubic hair Tanner stage 4 or 5, above average adult height, and mastectomy. No association was found between EMS and in vitro AR function. Interpretation: Birth EMS is a reliable predictor of spontaneous pubertal onset and healthy adult genitalia in PAIS with AR mutation.
Source link: https://doi.org/10.1016/j.ebiom.2018.09.047
In severely undermasculinized boys, changes in the androgen receptor pathway have been found, and androgen receptor gene mutations are common in partial or complete androgen sensitis syndrome. OBJECTIVE: The aim of this research was to determine if even the most common types of hypospadias are associated with AR mutations, and, therefore, whether all sorts of hypospadias warrant molecular examination of the AR. RESULTS: Five missense mutations of the AR were identified in 9 patients with glandular or penile anterior shaft, penile midshaft, and penile posterior hypospadias, i. e. , 3%; p. Q579V, two cases of p. A475V, p. D551H, and p. Q799E, respectively: p. Q575V. p. Q58L, p. P392S, and p. A475V. Three mutations have never been detected in patients with genital malformation, but only in isolated infertility: p. Q58L, p. P392S, and p. A475V. CONCLUSION: AR mutations may have a role in isolated hypospadias, even in the most minor forms.
Source link: https://doi.org/10.1371/journal.pone.0061824
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