Case Condensations

Aortic Dissection and Myocardial Infarction in a Pregnant Patient with Turner Syndrome

Turner syndrome (TS) is tightly associated with hypergonadotropic hypogonadism and ovarian dysgenesis, typically resulting in infertility in the great majority of patients. Therefore females with TS are usually treated with female sex steroids from 11–12 years of age until the normal age of natural menopause of around 53–54 years of age. Infertility is rated among females with TS as a distressing concern and a detractor from a good quality of life. Options for motherhood for females with TS has expanded during recent years. Originally, only adoption was an option, unless of course for the small minority of TS females that still has ovarian function and are capable of achieving pregnancy through normal means. Oocyte donation has become the mainstream option in many countries and seems to work well, especially if patients have been treated with optimal estrogen and gestagen for a prolonged time before the intervention. It comes with an increased risk of cardiovascular complications and TS oocyte donation pregnancies are viewed as high risk pregnancies necessitating increased vigilance. Oocyte cryopreservation of own oocytes is also becoming an option in a select group of TS and has special challenges. Ovarian tissue cryopreservation is a promising new techniques that has been applied successfully in children with cancer. Currently, several trials are running around the world evaluating this techniques in TS. The genetics and genomics behind the ovarian dysgenesis seen in TS is not understood, but new studies have elucidated global changes in DNA methylation and RNA expression in blood from persons with TS and it is likely that similar changes are present in the ovaries. We still, however, need more thorough research to fully uncover the genetic background of ovarian failure in TS. Gene expression studies and methylation analysis from ovarian TS tissues still needs to be performed.

To report the restoration of ovarian function in a woman with Turner syndrome by allografting ovarian cortex from her monozygotic twin.

Case report.

Gynecology research unit in a university hospital.

A 37-year-old woman with Turner syndrome who had suffered premature ovarian failure (POF) at the age of 15.

In this woman, we performed ovarian cortex transplantation. The donor was her monozygotic twin who had not experienced POF and who had had two normal deliveries.

Restoration of ovarian activity and pregnancy.

Restoration of ovarian function was achieved 3 months after transplantation. After 7 months of regular cycles, spontaneous pregnancy occurred. The patient delivered a healthy baby girl weighing 2,850 g at 38 weeks of gestation.

Girls with Turner syndrome suffer accelerated loss of ovarian follicles and only 2%–5% experience spontaneous menses with the potential to achieve pregnancy without medical intervention. This manuscript reports the first live birth after allografting between monozygotic twins with 45,XO/46,XX mosaicism and discordant growth pattern and ovarian function.

To assess fetal and maternal outcomes of pregnancies in women with Turner syndrome (TS).

Retrospective case series.

Clinical research center.

276 adults with cytogenetically proven TS participating in an intramural natural history protocol.

None.

Menstrual and obstetric histories, 50-cell karyotypes, and cardiovascular evaluation including aortic diameter measurements.

Our cohort included five women with spontaneous pregnancies and five with pregnancies using assisted reproduction (ART). All five women with spontaneous pregnancies had spontaneous puberty, despite 45,X in ≥90% of their 50-cell karyotype. Participants had a total of 13 pregnancies and 14 live births. One child had cerebral palsy; the others were chromosomally and developmentally normal. Delivery was by cesarean section in four out of seven spontaneous and six out of six ART-related pregnancies. One mother experienced preeclampsia in an ART-related twin pregnancy that required a preterm delivery; she has marked but stable aortic dilation years later.

Approximately 2% of our study cohort experienced spontaneous pregnancies despite high-grade X monosomy, and a similar number achieved pregnancy via oocyte donation and ART. The potential for life-threatening cardiovascular complications warrants comprehensive screening before conception or single-embryo transfer, and caution regarding unintentional pregnancies for TS women.

To report the fatal outcome of a woman with Turner syndrome (TS) undergoing assisted reproductive technology (ART).

Case report.

Reproductive medicine center.

A 33-year-old woman with TS.

Screening before oocyte donation and treatment of aortic dissection occurring at term pregnancy.

Evaluation of cardiovascular risk.

After a normal cardiac screening, a woman with TS got pregnant as a result of oocyte donation. At 16 weeks of gestation, a bicuspid aortic valve was detected and associated with moderate aortic root dilation. Aortic dissection was diagnosed at 38 weeks of gestation, which required emergent cesarean delivery and aortic root replacement. Despite surgical treatment, early maternal death was recorded.

Careful cardiac screening and close follow-up before and during pregnancy are necessary in patients with TS.

Le syndrome de Turner (ST) se caractérise par une dysgénésie ovarienne responsable le plus souvent d’un impubérisme et d’une stérilité. Dans moins de 10 % des cas, une puberté s’installe avec des cycles ovulatoires pendant quelques années autorisant de rares grossesses spontanées associées à un risque accru d’anomalies chromosomiques et/ou de malformations congénitales rendant nécessaires une information génétique préconceptionnelle et un diagnostic anténatal. Si la pratique du don d’ovocytes (DO) a transformé le pronostic de fertilité, le développement de l’Assistance médicale à la procréation (AMP) avec don a progressivement mis en évidence que la grossesse dans le ST, qu’elle soit obtenue spontanément ou après DO, était une grossesse à très haut risque, en premier lieu de fausses couches spontanées (FCS), en rapport probable avec des anomalies utérines, puis de complications cardiovasculaires, parfois mortelles (dissection aortique, hypertension artérielle [HTA] sévère) et de disproportion fœtopelvienne conduisant dans la majorité des cas à une césarienne. Aussi est-il aujourd’hui impératif de procéder à un bilan préconceptionnel complet comprenant en particulier une exploration cardiologique spécialisée avec Holter tensionnel, échographie cardiaque et imagerie par résonance magnétique (IRM) thoracique pouvant conduire à contre-indiquer la grossesse en cas de dilatation aortique ou renforcer la surveillance. Aujourd’hui, il est préconisé le respect absolu de la règle du transfert d’un seul embryon dans le ST en cas de DO et le maintien d’une surveillance cardiovasculaire spécifique pergravidique, en particulier au troisième trimestre et postgravidique immédiat, sur le plan tensionnel, de la fonction cardiaque et du diamètre de l’aorte ascendante, dans la mesure où la grossesse par DO du ST cumule dangereusement les risques liés aux malformations cardiaques, au terrain hypertendu du ST, à la fréquence de la prééclampsie liée au DO et au surcroît de travail cardiaque lié à la grossesse.

Turner's Syndrome (TS) is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with TS, puberty may occur and spontaneous pregnancies are possible with a high risk of fetal loss, chromosomal and congenital abnormalities. Fertile women with TS should therefore be counselled with regard to these increased risks and be offered prenatal diagnosis testing. For all the other women with TS, in vitro fertilization with oocyte donation (OD) has dramatically transformed the prognosis of infertility. However, in the same time, it has become obvious that pregnancies in TS either spontaneous or obtained after oocyte donation are at very high risk of possible sudden death. Miscarriages are very frequent probably linked to uterine abnormalities. The most specific risks lie in cardiovascular complications involving aortic root dissection, severe hypertension (HTA) or ventricular insufficiency. In fact pregnancies in TS women cumulate the risk of congenital heart defects and HTA associated to TS, the risk of preeclampsia associated to oocyte donation and the increased cardiac work necessary for pregnancy. It is therefore absolutely necessary for all women with TS to undergo a full cardiological assessment before seeking to become pregnant including echocardiography, thoracic magnetic resonance imaging (MRI) to verify aortic root, cardiac valves and left ventricular function, hypertension monitoring and treatment. Single embryo transfer must definitively be considered. Cardiovascular surveillance during pregnancy has to be enhanced especially at the third trimester and during the peripartum period, most women requiring caesarean section for delivery because of cephalopelvic disproportion and/or aortic root dilatation risk.