The karyotype of a patient with androgen insensitivity Syndrome is
Karyotype-46 ,XY. Normal genitK appearance -SRY deletion ,SF1 defect,Gonadal dysgenesis ,Severe StAR defect ,Complete androgen insensitivity syndrome. Genital ambiguity -Testicular dysgenesis ,Steroidogenic defects,Paial androgen insensitivity syndrome ,Aromatase deficiency. * Chromosomal study: Karyotype is 46, XY. * In infants and children, stimulation by hCG before measurement of hormones needed. * Serum testosterone is normal (or higher) * Serum E2 level is high normal for males * Serum LH level is normal or slightly elevated * FSH is normal. * USG: --Ovaries, uterus, upper 2/3rd of vagina and tubes are absent Reference: OP Ghai ,essential.paediatrics ,8 th edition, page no- 538,table 17.32 .
46XX
46XY
47XXY
45X0
Endocrinology