TURNER'S SYNDROME WITH SECONDARY AMENORRHOEA AND SEX CHROMOSOME MOSAICISM

Abstract

A female patient is described aged 28 years, height 145 cm, with infantile genitalia, infantile uterus and atrophic ovaries and in whom menstruation had occurred over a period of five years. Chromosome studies from bone marrow, blood, skin (arm and abdominal wall) and both ovaries revealed sex chromosome mosaicism and a structurally abnormal X chromosome. Three cell lines were observed. The prevalent cell line which was present in cultures from all tissues had 45 chromosomes and an XO karyotype; cultures from all tissues except the abdominal skin contained cells with 46 chromosomes, with an X-deleted X karyotype (the latter in the form of a large acrocentric chromosome); lastly a small dot-like (ring?) chromosome was present as the 46th chromosome in some cells derived from the abdominal skin and right ovary. The frequency of the different cell types in cultures from the ovaries differed considerably from those of other tissues.