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In the literature, there are just two people with 47,XXY karyotype and androgen receptor gene mutation mutations, and both are classified as complete androgen insensitivity syndrome. This is the first report of a female patient with a female patient with 47,XXY karyotypy and PAIS phenotype.
Source link: https://doi.org/10.1159/000468957
In both cases, physical examinations revealed breast of Tanner stage 3 and normal male-type external genitalia. gynecomastia to Tanner stage 2 was not present in two months of orally administered tamoxifen, resulting in improved gynecomastia. Body hair and penile length were negligible following additional testosterone enanthate therapy, which had negligible effects on body hair and penile length. The two cases during tamoxifen therapy were similar to those in previously reported untreated patients with PAIS. Conclusion: The findings reveal that tamoxifen was safe in treating pubertal gynecomatitia in these two patients with PAIS, and it may be considered as a therapeutic option in this situation pending further research.
Source link: https://doi.org/10.1159/000356923
Results: The breakpoint in the X chromosome of the X-chromosome of the X;5 translocation was localized to a 30-kb area. Conclusions: The AR gene defect is also known as androgen insensitivity syndrome, and it includes a variety of phenotypes from normal males, often with associated sterility, to XY females. According to the study of chromosomal abnormalities, this translocation may remove one or two key regulatory elements of the AR gene that are essential for its normal expression and representation in typical external masculinity.
Source link: https://doi.org/10.1159/000081064
Abstract Androgen receptor gene mutations have been shown to cause androgen insensitivity syndrome in XY people, ranging from partial and azoospermia to complete insensitivity with female phenotype and axillary sexual hair loss after puberty. In position +5 of the donor splice site in the junction between exon 6 and intron 6 of the AR gene, a guanine to thymine transversion was demonstrated by a morphological study of the patient. In many of the receptor messenger ribonucleic acid molecules, the result of RT-PCR amplification of the AR messenger ribonucleic acid from cultured genital skin fibroblasts of the patient shows that splicing is incomplete, and intron 6 is retained in the majority of the receptor messenger ribonucleic acid molecules. This is most likely responsible for the patient's decreased binding capacity in genital skin fibroblasts.
Source link: https://doi.org/10.1210/jcem.85.9.6815
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