Turner's syndrome and fertility: current status and possible putative prospects

Abstract

Women with Turner's syndrome should be carefully followed throughout life. Growth hormone therapy should be started at age 2-5 years. Hormone replacement therapy for the development of normal female sexual characteristics should be started at age 12-15 years and continued for the long term to prevent coronary artery disease and osteoporosis. Most women with Turner's syndrome have ovarian dysgenesis; therefore, they are usually infertile, and in very rare cases have spontaneous menses followed by early menopause. Only 2% of the women have natural pregnancies, with high rates of miscarriages, stillbirths and malformed babies. Their pregnancy rate in oocyte donation programmes is 24-47%, but even these pregnancies have a high rate of miscarriage, probably due to uterine factors. A possible future prospect is cryopreservation of ovarian tissue containing immature follicles before the onset of early menopause, but methods of replantation and in-vitro maturation still need to be developed. Should these autologous oocytes indeed be used in the future, affected women would need to undergo genetic counselling before conception, followed by prenatal assessment.

Serological screening for coeliac disease in adults with Turner's syndrome: prevalence and clinical significance of endomysium antibody positivity

“…Undiagnosed cluster of differentiation at the time of delivery may be associated with pre-term birth, intrauterine growth retardation and low or very low birth weight (22), all of which are already prevalent in TS pregnancies (23). This is in contrast to maternal cluster of differentiation diagnosed before birth which is not associated with adverse foetal outcomes.…”

Sexual health needs of a patient with mosaic Turner's syndrome

“…1 This has lead some researchers to raise the possibility of cryopreservation of ovarian tissue from adolescent girls with Turner's syndrome in order to treat future infertility. 1,[3][4][5] Most girls are now treated with a combination of growth hormone, with or without oxandrelone, and HRT. 1 Affected individuals require ongoing medical supervision throughout their adult life, as they are at an increased risk of several common diseases, and a multidisciplinary approach to treatment, preferably in a tertiary centre, is encouraged.…”

“…1 There have been many reports of spontaneous pregnancy in Turner's syndrome, more commonly in the mosaic rather than the non-mosaic forms of the condition. [4][5][6][7][8][9][10][11][12][13][14] The prevalence is estimated at 2-7.6%. 1,4 Natural pregnancies have been reported in amenorrhoeic women with Turner's who were receiving HRT, and in those with raised gonadotrophin levels.…”

“…[4][5][6][7][8][9][10][11][12][13][14] The prevalence is estimated at 2-7.6%. 1,4 Natural pregnancies have been reported in amenorrhoeic women with Turner's who were receiving HRT, and in those with raised gonadotrophin levels. 1,5,6,8 In those in whom the degree of infertility has not been established there may be a need for contraceptive advice.…”

“…It is known that there is a increased risk of miscarriage and of stillbirth in pregnancies of affected individuals, and of chromosomal abnormality or congenital malformation in any offspring, and so genetic counselling may be necessary. 1,4,5,7,10,12 Oocyte donation and embryo transfer avoids some of these risks and is now an accepted treatment for infertility in Turner's syndrome. 1,4 In addition, women with Turner's syndrome have an increased cardiovascular morbidity and mortality (particularly related to aortic dissection) during pregnancy, and this can occur in natural pregnancies or those resulting from oocyte donation.…”