Androgen Insensitivity Syndrome Among Cousin Sisters- A Rare Entity
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Date
2018-07
Journal Title
Journal ISSN
Volume Title
Publisher
IMED Research Publications
Abstract
Androgen 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.
Description
Keywords
testicular feminization syndrome, Androgen Receptor Deficiency, Primary amennorrhea, Comet assay, CAIS, Familial CAIS
Citation
Ramamurthy Sarah, Karuppusamy Aravindhan. Androgen Insensitivity Syndrome Among Cousin Sisters- A Rare Entity. International Journal of Anatomy and Research. 2018 Jul; 6(3): 5564-5567