Clinical profile and cytogenetic correlations in females with primary amenorrhea

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical radiological findings in females primary amenorrhea (PA).Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood drawn, informed consent, cytogenetic analysis.Results: An abnormal karyotype found 16.38% participants. The incidence structural (6.8%) exceeded that numerical (6.15%). Turner syndrome represented 45% all abnormalities. Furthermore, Y chromosome detected 5% PA. Among (n=32) mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives marker chromosomes normal variants (29.125%). examination secondary sexual characteristics revealed 29.6% had a complete absence breast development, 29.78% lacked pubic hair, 36.88% exhibited no axillary hair development. Radiological 51.22% hypoplastic uterus 26.66% completely absent uterus. Abnormal ovarian such as both ovaries, one ovary, other streak, or streak observed 69.47% Additionally 43.1%, 36.1%, 67.4%, 8% elevated levels serum follicle-stimulating hormone, luteinizing thyroid-stimulating prolactin, respectively. Conclusion: underscores importance karyotyping fundamental diagnostic tool assessing correlation these profiles will aid genetic counseling further management condition.