Successful pregnancy outcome in a woman with Turner’s syndrome

Abstract

Women with Turner's syndrome have a high incidence of cardiovascular complications, endocrine and hypertensive disorders. Those with the 45X chromosome complement require oocyte donation and in vitro fertilisation to conceive. Pregnancies in such women are challenging to manage due to the high risk of pregnancy-related hypertensive disorders, impaired glucose tolerance, fetal growth restriction and preterm birth. Women also need to be aware of the significant risk of aortic dilatation, dissection or rupture in pregnancy, which may be fatal. Despite these risks, favourable obstetric outcomes are achievable with careful pre-pregnancy counselling and cardiovascular assessment, intensive multidisciplinary antenatal monitoring and individualised delivery planning. We report the case of a 33-year-old woman with Turner's syndrome, pre-existing hypertension, insulin-dependent diabetes and primary hypoparathyroidism who had a successful pregnancy with good maternal and fetal outcomes despite the complexity of her medical conditions. Keywords High-risk pregnancy, diabetes, hypertension, infertility, Turner's syndrome Case reportA 33-year-old woman diagnosed with Turner's syndrome in childhood became pregnant after five cycles of in vitro fertilisation (IVF) with donor oocytes. She suffered from recurrent ear infections as a child, necessitating an adenoidectomy and myringotomy aged four. Karyotyping performed at the age of 10 due to short stature (126 cm) revealed monosomy 45X. She received growth hormone until the age of 16 to induce adult height. Oestradiol was commenced at age 13 to stimulate puberty, then switched to combined sequential hormone replacement therapy to protect the endometrium and induce progesterone withdrawal bleeds. Cardiac imaging revealed a small subaortic membrane with no significant gradient across the left ventricular outflow tract (peak of 12 mmHg only), good left ventricular function and no coarctation or dilatation of the aorta. She attended for annual echocardiogram and cardiology review and remained asymptomatic. She was admitted to hospital with persistent vomiting aged 22, found to be in diabetic ketoacidosis and diagnosed with type 1 diabetes. At the age of 27, she developed hypertension which was treated with lisinopril. She attended for pre-pregnancy counselling aged 28. Her height was 153 cm, weight 62 kg and BMI 26. Her antihypertensive medication was changed to methyldopa, as angiotensin-converting enzyme inhibitors are contraindicated in pregnancy. She commenced folic acid 5 mg daily. With the support of the diabetes team over the next four years, she reduced her HbA1c from 8.4% to obtain optimal glycaemic control with a continuous subcutaneous insulin pump. She also underwent laser treatment for diabetic retinopathy.Her fifth IVF cycle was successful and supported by oestradiol, progesterone, prednisolone, aspirin and low-molecular-weight heparin (LMWH). She received intralipid infusions on days 4-9 of her IVF treatment protocol in a research context, as investigations for ...

Aortic complications in pregnancy: the less remembered chapter—a narrative review

“…It is a rare genetic disorder that occurs when all or part of one of the two X chromosomes in the developing embryo is lost. Those with 45X0 chromosomes require oocyte donation and in vitro fertilization to conceive [26]. It is associated with risk of aortic root dilatation or aortic dissection.…”