Androgen Insensitivity Syndrome Among Cousin Sisters- A Rare Entity

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dc.contributor.authorRamamurthy, Sarahen_US
dc.contributor.authorKaruppusamy, Aravindhanen_US
dc.date.accessioned2020-04-23T07:29:18Z
dc.date.available2020-04-23T07:29:18Z
dc.date.issued2018-07
dc.description.abstractAndrogen insensitivity syndrome (AIS), is a X-linked disorder characterized by resistance to androgen caused bymutation of androgen receptor gene in which XY karyotype individuals exhibit female phenotype.AIS is characterised by evidence of feminization (under masculinization) of the external genitalia at birth,abnormal secondary sexual development at puberty, and infertility in individuals with 46 XY karyotype.We are presenting here a familial case of complete androgen insensitivity syndrome in south Indian Population.46 XY karyotype was found in two subjects who were cousin sisters with female phenotype,who presented withprimary amenorrhoea. Comet assay was done, which showed results comparable with normal males. In bothgirls’ inguinal gonads was present which was removed and hormonal therapy with estrogen was given to preventosteoporosis. Androgen insensitivity syndrome can be inherited as an X linked disorder as evidenced by previousstudies.en_US
dc.identifier.affiliationsAssistant Professor, Department of Anatomy, Pondicherry Institute of Medical Sciences, Kalapet, Pondicherry, India.en_US
dc.identifier.affiliationsAdditional Professor and Head, Department of Anatomy, JIPMER, Pondicherry, Indiaen_US
dc.identifier.citationRamamurthy Sarah, Karuppusamy Aravindhan. Androgen Insensitivity Syndrome Among Cousin Sisters- A Rare Entity. International Journal of Anatomy and Research. 2018 Jul; 6(3): 5564-5567en_US
dc.identifier.issn2321-4287
dc.identifier.issn2321-8967
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/198371
dc.languageenen_US
dc.publisherIMED Research Publicationsen_US
dc.relation.issuenumber3en_US
dc.relation.volume6en_US
dc.source.urihttps://dx.doi.org/10.16965/ijar.2018.282en_US
dc.subjecttesticular feminization syndromeen_US
dc.subjectAndrogen Receptor Deficiencyen_US
dc.subjectPrimary amennorrheaen_US
dc.subjectComet assayen_US
dc.subjectCAISen_US
dc.subjectFamilial CAISen_US
dc.titleAndrogen Insensitivity Syndrome Among Cousin Sisters- A Rare Entityen_US
dc.typeJournal Articleen_US
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