Summary
Fifty-nine cases with clinical signs of primary amenorrhea are investigated. Classification of primary amenorrhea was made based on chromosome analysis, endocrine studies and clinical findings. The incidence of primary amenorrhea patients is 0.3% in present study. Out of 59 cases with primary amenorrhea, 22 had chromosome abnormalities being represented by 12 cases with 45,X/46,XX, 3 cases with 46,X,i(Xq), 2 cases with 45,X/46,X,r(X), one each with 46,XX/46,X,i(Xq) and 45,X/46,X,i(Xq), and 3 with 46,XY. Thirteen are due to vaginal agenesis, 17 to ovarian origin, 4 to pituitary origin, and one each to adrenogenital syndrome, diabetes mellitus and hyperthyroidism, respectively. The stature and clinical picture of the patients is correlated with the absence or deletion of one X chromosome. When 13 patients with vaginal agenesis are excluded, 22 out of 46 primary amenorrhea patients showed abnormalities of chromosome, giving the incidence of 47.8%. This is higher than the incidences reported in some previous papers.
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Ko, MS. Cytogenetic survey of primary amenorrhea. Jap J Human Genet 27, 35–42 (1982). https://doi.org/10.1007/BF01994194
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DOI: https://doi.org/10.1007/BF01994194