eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | androgen insensitivity syndrome |
| Comorbidity | C0039585|androgen insensitivity syndrome |
| Sentences | 14 |
| PubMedID- 21645389 | The novel p.l830f mutation is responsible for grades 5 and 6 of partial androgen insensitivity syndrome in two generations of a brazilian family. |
| 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- 22489245 | Mutational analysis performed to evaluate for androgen insensitivity syndrome demonstrated that there was no disease-associated mutation identified in exons 1–8 of the androgen receptor gene (genedx, gaithersburg, md). |
| PubMedID- 25785213 | androgen insensitivity syndrome (ais), müllerian agenesis or mrkh, or transverse vaginal septum is considered in patient with appropriate breast development [5], which can be easily distinguished from each other with careful history and physical examination and few laboratory tests. |
| 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). |
| PubMedID- 24024055 | To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3d-4d ultrasound in a fetus with a 46xy karyotype, testing negative to the mutation analysis of sry gene and the 5α-reductase 2 gene (srd5a2). |
| PubMedID- 20210997 | androgen insensitivity syndrome (ais) can result in a variety of defects in the affected patient, including gynecomastia, cryptorchidism and hypospadias. |
| PubMedID- 22194745 | Before puberty, the phenotypes of 46,xy dsd due to androgen insensitivity syndromes or 5α-reductase type 2 deficiency are, in general, indistinguishable, particularly when there is no parental consanguinity (5α-reductase type 2 deficiency is an autosomal recessive disorder) or family history consistent with x-linked inheritance (androgen insensitivity syndromes) [2–5]. |
| PubMedID- 21716934 | androgen insensitivity syndrome (ais/ims) is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development at puberty, and infertility in individuals with a 46,xy karyotype. |
| 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- 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- 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- 22174500 | androgen insensitivity syndrome (ais), also called testicular feminization syndrome, is a form of x-linked male pseudohermaphroditism that is clinically recognized in patients with a female phenotype. |
| 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. |
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