Title: Cytogenetic Analysis of Females with Primary Amenorrhea in Pakistani Population
Authors: Muhammad Jamil Awan, Maria Anwar Khan, Rameeza Sajjad, Sajjad Ullah, Ahmed Bilal Waqar
Volume: 8
Issue: 12
Pages: 1-8
Publication Date: 2024/12/28
Abstract:
Primary amenorrhea is a condition that refers to the complete absence of menstruation in young females. The current study aimed to determine chromosomal anomalies of females with primary amenorrhea. This was designed in cytogenetic laboratory, hematology department, armed force institute of pathology, Central military hospital Rawalpindi, Pakistan. A total of three hundred individuals with a history of primary amenorrhea were selected. Peripheral blood samples were taken in sodium heparin tubes and processed by standard karyotyping technique. From these 300 female individuals 120 had chromosomal anomalies, out of which 75 cases were 46XY; 25 were 45XO; 03 were 46XiXq, 04 were delXq, 04 were XYqdel, and 05 were observed to be Mosaic turner's syndrome. While 2 patients had Marker's chromosome and 2 had 47XXX. Prominent features observed during the research work were hirsutism (61.50%), breast (51.40%) & pubic hair (7.30%) development. Ultrasound revealed the percentage of females with normal uterus to be 19.3% while 20.2% individuals were without uterus. LH and FSH hormone levels were normal in 9.2% women while the hormonal level elevated in 6.5% and observed low in 4.6% women individuals. Prolactin level was observed to be normal in 12.8%; lower in 0.9% and higher in 6.4% women. Current study underlined the importance of the cytogenetic analysis for primary amenorrhea and also provides significant insights for better awareness and management of the condition as cytogenetic anomalies plays a considerable impact on an individual's life.