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PedAM

Pediatric Disease Annotations & Medicines




Disease androgen insensitivity syndrome
Phenotype C0039585|androgen insensitivity syndrome
Sentences 25
PubMedID- 25395750 Formation of androgen insensitivity syndrome support groups (aissg) as in the developed countries will help in building self confidence in these patients.
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- 20210997 androgen insensitivity syndrome (ais) can result in a variety of defects in the affected patient, including gynecomastia, cryptorchidism and hypospadias.
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- 21911322 5a-reductase type 2 deficiency (38,39,40) and complete/partial forms of androgen insensitivity syndromes (cais, pais) result in disorders of androgen action (22,23).
PubMedID- 26160035 Furthermore, anti-androgen therapy or androgen insensitivity syndrome inducing lh secretion resulted in the same phenotype [40, 54].
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- 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- 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- 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- 26430655 androgen insensitivity syndrome is the common diagnosis in patients with breast development and minimal or no pubic hair (i.e.
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- 24371685 Complete androgen insensitivity syndrome (ais) is a rare x-linked disease with an estimated prevalence of 1 in 20,000 and is characterized by a 46,xy karyotype and a female external phenotype (wisniewski et al., 2000).
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- 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- 24909511 Several diseases, such as androgen insensitivity syndrome (ais) and prostate cancer, are associated with alterations in ar functions.
PubMedID- 22323966 All patients with 46,xy complete androgen insensitivity syndrome (cais), who are assigned female sex in infancy identify as females and there is agreement to raise these patients as females [32,35].
PubMedID- 23533861 androgen insensitivity syndrome (ais) could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures and systems in which this hormone exerts its effects.
PubMedID- 25433660 The androgen insensitivity syndrome patient database at the university of cambridge reports that mutations are present in 95% of their complete ais patients, but in only 25% of their partial ais patients [10].
PubMedID- 23940781 Complete androgen insensitivity syndrome (due to lack of ar function) presents with a female habitus and physiology, including the developmental brain pattern - in spite of internalised testes that secrete normal levels of testosterone [42].
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- 25191030 Complete androgen insensitivity syndrome (cais), formerly known as “testicular feminization syndrome,” was first described by morris in 1953 in a review of 82 cases.
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- 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].

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