Androgen Insensitivity Syndrome Among Cousin Sisters- A Rare Entity

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.

Primary Amenorrhea In Kabuki Syndrome: A Case Report

Kabuki syndrome also called as Niikawa Kuroki syndrome is a paediatric congenital disorder characterised bydistinctive facial features, skeletal anomalies, short stature, dermatoglyphic abnormalities and mentalretardation. This syndrome usually manifests with precocious puberty. We are presenting a case of Kabukisyndrome from the South-Indian population with primary amenorrhea for the first time. Further, the clinicalfeatures had considerable overlap with Turner syndrome, and chromosomal analysis revealed the presence ofring (X) chromosome with 45,X karyotype.