Atypical Gonadal Dysgenesis

Abstract

Summary Three patients with unusual forms of gonadal dysgenesis are reported. The first had a 45, XO chromosome constitution and had secondary amenorrhoea after menstruating regularly for more than eight years. She was of short stature but secondary sexual characteristics were well developed. Laparotomy and ovarian biopsy showed streak gonads devoid of follicles. The other two patients were chromosomal mosaics. Both had two cell lines, one of which was 45, XO. The other cell line was 46, XX in one patient and 46, XXq‐ (long arm deletion of X) in the other. Both these patients had primary amenorrhoea and were of longer stature than is usual in Turner's syndrome. The literature about patients with menstrual bleeding in spite of the presence of a 45, XO chromosome constitution, either in pure or mosaic form, is briefly reviewed.