Specific Chromosomal Aberrations in Primary Amenorrhoea: Study on 3776 Cases from Indian Population

Cytogenetic studies in primary amenorrhoea cases

“…The presence of extra X chromosomes causes ovarian failure due to hormonal imbalance. [ 14 ] Complete or partial deletion of chromosome X and consequent gene insufficiency in deleted regions also leads to gonadal dysgenesis. [ 13 ] It is known that deletion of the long arm of the X chromosome leads to ovarian failure.…”

“…[ 13 ] It is known that deletion of the long arm of the X chromosome leads to ovarian failure. [ 14 ] The ZFX gene is another critical gene for the normal development of female gonads that is located on the short arm of the X chromosome. [ 15 ] The lack of Short Stature Homeobox (SHOX), a vital growth development gene located on the short arm of the X chromosome, has also been reported to be a major cause of Turner syndrome phenotype and primary amenorrhoea.…”

“…[ 15 ] The lack of Short Stature Homeobox (SHOX), a vital growth development gene located on the short arm of the X chromosome, has also been reported to be a major cause of Turner syndrome phenotype and primary amenorrhoea. [ 14 ]…”

“…Sex-reversed female, individuals with female phenotype but 46, XY karyotype, occurs in the embryos with a mutation or deletion on testis determining factor, the sex determination region of the chromosome Y (SRY gene). [ 14 16 ] These subjects often represent normally developed Müllerian ducts, gonadal dysgenesis, poorly developed breast, absence of the uterus or ovaries and primary amenorrhoea. [ 14 16 ] The chromosomal abnormalities in primary amenorrhoea could be grouped as the X numerical; X structural, structural and numerical abnormalities together, 46, XY female and sex reversal condition [ Figure 3 ].…”

“…[ 14 16 ] These subjects often represent normally developed Müllerian ducts, gonadal dysgenesis, poorly developed breast, absence of the uterus or ovaries and primary amenorrhoea. [ 14 16 ] The chromosomal abnormalities in primary amenorrhoea could be grouped as the X numerical; X structural, structural and numerical abnormalities together, 46, XY female and sex reversal condition [ Figure 3 ]. Their frequencies from different reported articles are: 45, X (40%–50%), X mosaicism (25%–36%), X structural (8%), 46, XY female (16%) and mosaicism of male chromosome constitution (45, X/46, XY) (1.36%).…”