TURNER-SYNDROM MIT VOLL AUSGEBILDETEN SEKUNDÄREN GESCHLECHTSMERKMALEN UND FERTILITÄT

Abstract

ABSTRACT Two women with normally developed secondary sex characteristics are reported. Both had spontaneous menstrual cycles, the first one during a period of 4 years, the second one started menstrual bleedings at the age of 17 and had menstrual cycles of regular intervals up to the present age of 39. She had given birth to a healthy boy at the age of 31. Both patients are chromatinnegative, of short stature and one has a unilateral webbed neck. Therefore they had to be classified as cases of Turner's syndrome. In cultures of bone marrow and skin fibroblasts the patient who has born a child was shown to have 45 chromosomes (2n + OX). The findings presented are in contrast to latest hypothesis of chromatinnegative Turner's syndrome according to which sex chromosomal anomaly XO leads to development of rudimentary ovaries.