[Selected problems of the diagnosis of Turner's syndrome]

Turner's syndrome (TS) can be diagnosed in one out of 2130 females. The aim of the current study was to collect data about circumstances associated with the diagnosis of the syndrome. The material consisted of 177 female patients from the whole Polish territory, that turned to the out-patient Clinic for Women with Turner's syndrome, Specialist Hospital No 2 Bytom. Patients underwent physical examination and all relevant clinical information were analysed. The mean age when the abnormal symptoms were found was 8.5 years. Only 50% of those, who first turned their attention to these symptoms, were the health care workers. The initial symptoms were quite variable. Classical symptoms, i.e. short stature and amenorrhea were present respectively in only 41% and 8% of patients. In 16% of patients the diagnosis was significantly delayed, because, due to a lack of symptoms TS was not suspected. The latest cases were diagnosed at the age of 14.6 +/- 8.2 years. When it came to analysing karyotypes, simple chromosome X monosomy was present in 56% of patients and in 24% of cases mosaic karyotypes were found. Studies were performed in 14 cities in Poland.

1. In most cases diagnosis of TS was markedly delayed. 2. More efforts are required in order to perform karyotype studies in younger patients then it is now. Also molecular studies should become more easily available, since they are a necessary supplement to cytogenetic studies.