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.
ABSTRACT
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.
ABSTRACT
AIM: This study aims at evaluating the chromosomal abnormalities and deoxyribonucleic acid (DNA) damage in cases with primary amenorrhea by karyotyping and comet assay. STUDY DESIGN: A total of 30 cases of primary amenorrhea were recruited. Secondary sexual characters were assessed by Tanner staging. Chromosomal analysis was performed by conventional phytohemagglutinin stimulated lymphocyte cell culture technique. Alkaline version of comet assay was used to evaluate DNA damage. RESULTS: The chromosomal pattern of 20 subjects (66.7%) was found to be normal (46,XX). Two subjects had 46,XY pattern and eight subjects had Turner syndrome (45,X or 45,X/46,XX). The comet parameters were found to be increased among subjects with 45,X monosomy, when compared to the rest of the study group and also in subjects with Tanner stage 1 when compared to stage 2. CONCLUSION: Comet assay revealed increased DNA damage in cases with 45,X monosomy, compared with subjects with 46,XX and 46,XY karyotype, which correlated with clinical features.