Clinical, pathologic, and genetic findings in a case of 46,XY pure gonadal dysgenesis (Swyer's syndrome).
Cytogenetic, pathologic, and clinical studies were conducted on a phenotypically female patient with primary amenorrhea and infertility. Analysis of blood cultures with routine and Giemsa-banded preparations indicated that the chromosomal complement of the patient was 46,XY. Buccal and peripheral blood smears prepared for fluorescent analyses confirmed the presence of a single F-body (Y chromosome). Pathologic examination of tissues removed at total hysterectomy and bilateral salpingo-oophorectomy revealed a gonadoblastoma of the right gonad, dysgerminoma of the left gonad, and an infantile hypoplastic uterus. The data were consistent with a diagnosis of 46,XY pure gonadal dysgenesis (Swyer's syndrome).
D000293:Adolescent; D004407:Dysgerminoma / Q000150:complications* / Q000473:pathology / Q000532:radiotherapy; D005260:Female; D006801:Humans; D007621:Karyotyping; D008207:Lymphatic Metastasis; D010051:Ovarian Neoplasms / Q000150:complications* / Q000473:pathology / Q000532:radiotherapy; D012729:Sex Chromosome Aberrations / Q000150:complications*; D013577:Syndrome