Report of a case of true hermaphroditism with karyotype 45,X/46,XX/46,X,mar/47,XX,mar.
The case of a 24-year-old man with hypoplastic external genitalia, lack of the right scrotal testis and gynaecomastia has been described. In the intermitotic cells the cytogenetic investigations revealed the presence of the X body and the absence of the Y body. A 45,X/46,XX/46,X,mar/47,XX,mar karyotype could be established. On laparotomy a rudimentary ovary, uterus and vagina were detected on the right side of the abdominal cavity.
D000328:Adult; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome