Epidemiological characteristics and the role of cytogenetic investigation in primary amenorrhea

Primary amenorrhea is a major problem in girls of adolescent age This descriptive study was conducted to describe the epidemiology and to identify the proportion of genetic causes and the different chromosomal pattern among patients representing with delayed puberty or primary amenorrhoea who attended the medical genetic center, Ain Shams University. A total of 102 patients were included in the study. All patients underwent complete full history taking, general physical examination, local examination of genital system, hormonal assay, pelvic ultrasound and Karyotyping analysis. Their mean age at diagnosis were [20.1 +/- 4.2.] Secondary sexual characters were not developed among most of the study group [74.5%] Normal phenotypic 46, XX were found among 67.6% of cases, while chromosome abnormalities were found in 32.4%. Among all patients with chromosomal aberrations, 48.5% of then1 had pure line 45, X [turner syndrome], and the remainder had mosaic with normal XX or other aberrations in X. Only one had 46XY, and another one had 47XXX. The frequencies of causes of primary amenorrhea were primary ovarian failure [gonadal dysgenesis] [49%] followed by constitutional delay of puberty [22.5%] then mullerian duct abnormalities [15.7 5%] The study recommended that all females with primary amenorrhea should be investigated cytogenetically and counseling should be directed to hormonal replacement of estrogen and growth hormone for development of secondary sexual characters and normal stature and prevention of osteoporosis