Cytogenetic investigations in 201 females with primary amenorrnea

ABSTRACT

Two hundred and one females with primary amenorrhea were studied cytogenetically. Sex chromosome anomalies were found in 31 [15.4%] cases, including 17 females with the karyotype of Turner syndrome and 14 patients with the testicular feminisation syndrome. Among females with normal karyotype 17 cases strongly pointed to a single gene or unifactorial etiology, and 14 cases suggested the diagnosis of Rokitansky syndrome. The underlying cause of the primary amenorrhea in 139 patients remained obscure. These results indicate that cytogenetic investigation is one of the essential diagnostic tools in primary amenorrhea