Therapeutic challenges in a patient with Turner syndrome and IVF pregnancy – case report

Introduction. Turner syndrome (TS) is a rare genetic dis­or­der associated with gonadal dysgenesis and in­fer­tility. Patients have a low rate of spontaneous preg­nan­cies and live births. Pregnancy in patients with TS can present multiple complications: increased risk of mis­car­riage, chromosomal abnormalities, low birth weight, cae­sa­rean section and maternal complications, especially car­dio­vas­cu­lar diseases. Case report. We presented the case of a 34-year-old patient with Turner syndrome who achieved a pregnancy after oocyte donation. The patient was diagnosed with ventricular septal defect, horseshoe kid­ney and autoimmune thyroiditis with euthyroidism. Preg­nancy follow-up was performed in accordance with cur­rent guidelines. The patient underwent first-trimester fe­tal ultrasound and noninvasive prenatal testing that did not identify the presence of chromosomal or anatomical ab­nor­ma­li­ties. During pregnancy, careful cardiological and endocrinological surveillance of the patient was ne­ces­sary, considering the associated pathologies. Throughout the pregnancy, the patient presented normal thyroid and cardiac function. The patient developed gestational dia­be­tes which was managed through diet. The patient gave birth by caesarean section for cephalopelvic disproportion at 38 weeks of pregnancy. Two hours after delivery, the pa­tient presented profuse vaginal bleeding and uterine atony. Peripartum hysterectomy with ovarian preservation was performed. The patient’s evolution was favorable. The newborn presented good postnatal adaptation and evo­lu­tion. Conclusions. Pregnancy in patients with Turner syn­drome requires special care. Preconceptional counseling and evaluation of these patients are essential to identify TS-associated abnormalities. Pregnancy management in pa­tients with Turner syndrome should be individualized, in or­der to reduce the risk of maternal and fetal complications.