| Abstract: | OBJECTIVES: Patients with Turner syndrome (TS) may present a wide spectrum of gonadal function including spontaneous menstruation and fertility. DESIGN: The aim of our study was to present the patients with Turner syndrome (TS) with spontaneous menstruations considering specific karyotype and X-inactivation processes. MATERIALS AND METHODS: 5 women from group of 55 patients in age from 15 to 38 years with diagnosis of TS and gonadal function were found. Clinical analysis included the evaluation of spontaneous pubertal development and hormones levels. Cytogenetic analysis was performed on peripheral blood samples using GTG banding technique. X inactivation studies were done by dynamic RBG technique. RESULTS: In two patients with mosaic karyotype and predominant 46,XX line two pregnancies were observed. They had regular menses and normal sexual development. In one patient (karyotype: 45,X2]/46,XX98]) spontaneous abortions and premature birth were present. Second patient was (46,XX245]/46,X,r(X)(p22q26)5]) in pregnancy in this time. Another three patients menstruated irregularly. The menarche appeared later. The karyotypes were: 46,X,del(X)(p11.3) in two patients and 45,X64]46,X,r(X) (p22q26)18]/46,XX4] in one. CONCLUSIONS: We conclude that spontaneous menstruations and possibility of pregnancy depend on specific karyotype in patients with TS. |
