eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | complete androgen insensitivity syndrome |
| Comorbidity | C0039585|androgen insensitivity syndrome |
| Sentences | 6 |
| PubMedID- 22567497 | complete androgen insensitivity syndrome is a type of male pseudohermaphroditism in genotypically xy and phenotypically female patients, in which there is a defect that prevents normal androgen receptor function. |
| PubMedID- 22720173 | However, dysregulation of androgen-responsive genes does not likely contribute to the neurological symptoms of sbma, because complete androgen insensitivity syndrome associated with total loss of ar function has no signs of neurodegeneration [28], and ar knock out mice are also normal in motor neuron functions [29]. |
| PubMedID- 24240122 | This article presents a case of geriatric complete androgen insensitivity syndrome diagnosed incidentally following strangulated inguinal hernia surgery, in which malignant development was not seen in the excised testicle tissue. |
| PubMedID- 24385015 | Conversely, the musculoskeletal system of transsexual men shows a dramatic shift from the female to male phenotype after ovariectomy and prolonged t treatment.75 similarly, xy women with complete androgen insensitivity syndrome due to inactivating ar mutations have reduced bmd and a bone geometry intermediate between male and female, and estrogen treatment does not induce periosteal bone apposition in these subjects.76 bmd is however much lower in both xy and xx women with gonadal dysgenesis, implying that gonadal status or sex steroids are more important than chromosomal determinants.77 overall, we can conclude that androgens (or ar mediated androgen action) are necessary for musculoskeletal sexual dimorphism in development and ageing, although they probably have important indirect actions on bone via aromatization, oxidative stress,78 proinflammatory cytokines,7980 growth factors (e.g. |
| PubMedID- 22384429 | complete androgen insensitivity syndrome (cais), or testicular feminization, is a rare x-linked recessive disease characterized by variable defects in virilization of individuals with male karyotype (46,xy) and an absence of sex chromatin. |
| PubMedID- 25741229 | Moreover, participants with complete androgen insensitivity syndrome presented with female-like neural activation pattern in the parietal lobe, indicating that gonadal hormone exposure rather than genetic sex itself plays role in brain functions (van hemmen et al., 2014). |
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