Hereditary Genetics: Current Research

Conventional cytogenetic analysis of females with primary amenorrhea

8^th World Congress on Epigenetics and Chromosome

August 17, 2021 | Webinar

Muhammad Jamil Awan

Cytogenetics genetics Supervisor at Chughtai's Laboratory, Lahore

Scientific Tracks Abstracts: Hereditary Genet

Abstract:

The study was designed to determine the chromosomal abnormalities of females with primary amenorrhea. Two hundred patients with history of primary amenorrhea were tested. Samples are processed by standard KAROTYPING technique. Results: A total of 200 females were presented with primary amenorrhea. Out of these 200 females 80 had chromosomal abnormalities. During this study, prominent clinical features noted were up development of breast (51.40%), hirsutism (61.50%) and pubic hair (7.30%). Ultrasound reports showed that 19.3% females had normal uterus, 51.4% had small and 20.2% had no uterus. Hormonal status showed 9.2% females had normal FSH and LH values, 6.5% had raised and 4.6% had low.6.4% females had raised prolactin level, 0.9 had low and 12.8% had normal level of prolactin. During this study80 (60%) cases were chromosomal abnormal, 50(83%) Cassese with 46, XY, 10(12.5%) 45, XO, 10(12.5%) iXq, 02(2. %)DelXq, 05(6.2%) XYqdel, 03(3.7%) Mosaic turner ‘syndrome.