Clinical, pathologic, and genetic findings in a case of 46,XY pure gonadal dysgenesis (Swyer's syndrome).

Abstract

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).

• Authors: A P Amarose, A A Kyriazis, E Dorus, F Azizi
• Journal: American journal of obstetrics and gynecology (Am J Obstet Gynecol) Vol. 127 Issue 8 Pg. 824-8 (Apr 15 1977) ISSN: 0002-9378 [Print] United States
• PMID: 851137 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Topics

• Adolescent
• Dysgerminoma (complications, pathology, radiotherapy)
• Female
• Humans
• Karyotyping
• Lymphatic Metastasis
• Ovarian Neoplasms (complications, pathology, radiotherapy)
• Sex Chromosome Aberrations (complications)
• Syndrome