A triple-X female with long arm deletion of one of the X-chromosomes associated with primary amenorrhoea: 47,XX, +del(X) (q27.3).

A 25-year-old phenotypic female with primary amenorrhoea was referred for chromosomal analysis. Earlier she had undergone hormonal therapy but showed no response. The secondary sex characters were of female type, with poor breast development. Laparoscopic findings revealed the presence of a very small uterus; the right ovary was found to be undeveloped and the left was absent. Cytogenetic study revealed a case of triple-X with deletion of the terminal region of the long arm of one of the X chromosomes [Xq27.3]. Among the 100 buccal mucosa cells analysed, 30 cells showed double Barr bodies. Hormonal studies using RIA technique revealed normal levels of prolactin (9.1 ng/ml), a high level of FSH and LH (135 and 61 mIU/ml) and low levels of estradiol and progesterone (12 pg/ml and 0.20 ng/ml respectively). To our knowledge, this may be the first report of a triple X with deletion of the X chromosome associated with primary amenorrhoea.