title: The etiology in 77 primary amenorrhea patients.
abstract: This study is based upon an analysis of 77 cases of primary amenorrhea. The work-up included a complete endocrinological study, cytogenetics, laparoscopy, and gonadal biopsy. Of the total number of patients, 31 had a completely developed female phenotype, 22 had an insufficiently developed one, and the remaining 24 patients were characterized by infantilism. A positive sex chromatin was obtained in 59 patients, and negative in 18. Out of 77 patients, 25 had an abnormal karyotype or one corresponding to the opposite sex. In six patients, the existence of a Y chromosome in the karyotype was found in spite of the female phenotype. Five patients had the testicular feminisation syndrome.
mesh_terms: D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000235:genetics* / Q000473:pathology; D013734:Androgen-Insensitivity Syndrome / Q000150:complications; D002648:Child; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications; D006801:Humans; D007621:Karyotyping; D008297:Male; D009095:Mullerian Ducts / Q000473:pathology; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000150:complications; D014998:Y Chromosome