Endocrine Abstracts

Aims: Spontaneous pregnancy (SP) in Turner’s syndrome (TS) has been reported, with a prevalence of 2 to 7%. The aim of this study was to evaluate the prevalence and the outcome from spontaneous pregnancies (SPs) in a cohort of women with TS from a single centre, in order to give realistic counselling regarding options for fertility.

Methods: We considered the following data: karyotype, age at diagnosis of TS, age at the time of the study, cardiac, and metabolic comorbidities. Reproductive history was collected.

Results: We analysed 104 adult women with TS, median age 33y (range 18–73). Diagnosis of TS was at a median age of 13y (range 0–58) and 44/104 had a 45X0 karyotype. There were 26 successfull (live offspring at term) pregnancies: 22 were SPs and 4 assisted-pregnancies. 13 women (12.5%) had successfull SPs: the numbers of SPs per patient was one (8pts), two (4pts), three (6pts) and four (1pt). Complications were: one stillbirth, one termination and five women had miscarriages. No aortic dissection or cardiac complications were observed. Three patients with karyotype 45X0 had successful SPs. Of them one woman had 4 successfull SPs and 17 miscarriages. No fetal complications were reported. One daughter was diagnosed with TS. The only predictive factor for SP comparing the 13 women with SPs with the non-pregnant TS patients was 45X, 46XX and/or 47XXX mosaicism (46% versus 9.8%).

Conclusions: This study shows a higher rate of SP in women with TS than previously reported; that karyotypes with mosaicism 45X0, 46XX and/or 47XXX are predictive for SP, but importantly that a non mosaic karyotype (45X0) does not absolutely preclude SP. This emphasises the importance of counselling for young TS women regarding fertility including potential for SP, contraception, and education regarding complications in pregnancy.