A case of complete testicular feminisation and 47,XXY karyotype

J Med Genet. 1979 Dec;16(6):480-3. doi: 10.1136/jmg.16.6.480.

Abstract

A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Androgen-Insensitivity Syndrome / genetics*
  • DNA Replication
  • Female
  • Humans
  • Karyotyping
  • Male
  • Pedigree
  • Sex Chromatin / ultrastructure
  • Sex Chromosome Aberrations / genetics*
  • Syndrome
  • X Chromosome