A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis

P. A. Gantt, J. R. Byrd, R. B. Greenblatt, P. G. McDonough

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

The cytogenetic and phenotypic findings in 15 patients with 45,X/46,XY mosaicism are described. Six patients presented with delayed sexual development without masculinization. The remaining nine patients had varying degrees of masculinization, ranging from clitoromegaly to hypospadic male phenotypes. Cardiovascular/renal anomalies were detected in 2 of the 15 patients. Gonadoblastomas were present in two patients and did not appear to correlate with the degree of masculinization or percentage of 46,XY cells present. Structural Y chromosome abnormalities were seen in three of the 45,X/46,XY probands. MZ twinning occurred in one of the 45,X/46,XY sibships.

Original languageEnglish (US)
Pages (from-to)216-221
Number of pages6
JournalFertility and sterility
Volume34
Issue number3
DOIs
StatePublished - 1980

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

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