Genetic analysis of a family with complete androgen insensitivity syndrome.

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dc.contributor.authorKumar Kota, Sunil
dc.contributor.authorGayatri, Kotni
dc.contributor.authorKota, Siva Krishna
dc.contributor.authorJammula, Sruti
dc.date.accessioned2015-03-05T06:20:44Z
dc.date.available2015-03-05T06:20:44Z
dc.date.issued2013-07
dc.description.abstractAndrogen insensitivity causes impaired embryonic sex differentiation leading to developmental failure of normal male external genitalia in 46 XY genetic men. It results from diminished or absent biological actions of androgens, which is mediated by the androgen receptor (AR) in both the embryo and secondary sexual development. Mutations in the AR located on the X chromosome are responsible for the disease. Almost 70% of affected individuals inherit the mutation from their carrier mother. We hereby report a 10‑year‑old girl with all the characteristics of complete androgen insensitivity syndrome (CAIS). Similar scenario was observed in 3 maternal aunts, Sequencing of the AR gene in all the family members revealed C 2754 to T transition in exon 6. It was concluded that the C 2754 to T transition rendered the AR incapable of both ligand‑binding and activating the transcription and was the cause of CAIS in the patient.en_US
dc.identifier.citationKumar Kota Sunil, Gayatri Kotni, Kota Siva Krishna, Jammula Sruti. Genetic analysis of a family with complete androgen insensitivity syndrome. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 355-357.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156592
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2013;volume=19;issue=3;spage=355;epage=357;aulast=Kotaen_US
dc.subjectAndrogen insensitivityen_US
dc.subjectandrogen receptoren_US
dc.subjectligand‑binding domainen_US
dc.subjectmutationen_US
dc.subject.meshAndrogen-Insensitivity Syndrome --analysis
dc.subject.meshAndrogen-Insensitivity Syndrome --diagnosis
dc.subject.meshAndrogen-Insensitivity Syndrome --epidemiology
dc.subject.meshAndrogen-Insensitivity Syndrome --genetics
dc.subject.meshChild
dc.subject.meshConsanguinity
dc.subject.meshFamily --history
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshLigands
dc.subject.meshMutation
dc.subject.meshReceptors, Androgen --genetics
dc.titleGenetic analysis of a family with complete androgen insensitivity syndrome.en_US
dc.typeArticleen_US
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