Publications

Androgen insensitivity syndrome is a condition that affects sexual development of a child. Children with this condition are genetically male, with XY karyotype and female phenotypic presentation. The sex of rearing differs from female to male. The condition is mainly due to genetic mutations in the candidate X and Y chromosomal genes. Due to which the XY chromosomes do not function the way it should be and thereby leading to a condition where the body is unable to respond to androgen. Source: Genetic referral for Division of Human Genetics, St .John's Medical College. Aim: A study to bring about sibling association in XY female using pedigree analysis Material and Methods:Standardized peripheral lymphocyte culture and pedigree analysis Results: Pedigree analysis showed three daughters born to consanguineous couple. All the three daughters had decreased sexual characters and delayed menarche. Karyotype showed 46,XY female in all the three daughters. MLPA analysis did not show any changes. Discussion: XY female with decreased sexual characteristics and absent uterus and ovaries with female phenotype are referred to as complete androgen insensitivity syndrome. This condition follows X-linked mode of inheritance. The condition is familial within the family, where maternal aunts and female siblings of the affected individuals are also affected. Hence karyotype is recommended for the other female family members who are also presenting with similar complaints. With cytogenetic evaluation the affected individual and family can be provided with appropriate genetic counseling and management