We examined the case of a 36-yr-old primigravid woman with STs. She had a mosaic karyotype with 3 clones: 45X (69), 46XX (23), 47XXX (8), and 1000 interphase nuclei. Karyotype corresponds to STs. The morphotype is characteristic of the syndrome: short stature, obesity, low-hair growth, epicanthus, lymphedema, inverted nipples, and the curvature of the lower leg bones. Pregnancy was done by IVF with a donor egg, height 155 cm, weight 71.3 kg, and body mass index of 29.7 on registration. She was examined by the following specialists: an endocrinologist, cardiologist, geneticist, hematologist, urologist, and therapist. The endocrinologist diagnosed STs hypothyroidism and prescribed eutirox 75 mg once a day for a long time. The ultrasound of the thyroid gland showed a colloid cyst of small size, 0.55 cm. The cardiologist diagnosed chronic arterial hypertension of the first degree. Methyldopa was prescribed 250 mg once a day from the gestational age of 10 wk. During echocardiography, the aorta remained unchanged and not dilated; the valves were intact; the heart cavities were not violated; the systolic function was not impaired, and the diastolic function was type 1 impaired. In addition to STs, the geneticist diagnosed 2 gene polymorphisms: identified homozygous mutations in the fibrinolysis system gene, and a heterozygous mutation in the gene regulating the accumulation of homocysteine. The consequence of these mutations might be associated with a decrease in the fibrinolytic activity of the blood and the accumulation of homocysteine in the blood. After genetic analysis, the hematologist diagnosed congenital thrombophilia. A violation of folate metabolism was identified.
Prescription: folic acid 800 gr, low-molecular weight heparin (LMWH) 0.4 ml subcutaneously 1 time per day under D-dimer control, acetylsalicylic acid 75 mg per day in the evening until 36 wk of pregnancy. The urologist diagnosed for chronic pyelonephritis in remission. Congenital malformations of the urinary system were not detected during the ultrasound study; however, a culture of urine revealed bacteriuria, which was treated with phosphomycin. In addition, phytourinary antiseptics were permanently assigned. The woman accepted calcium preparations of 1.0 gr to prevent hypertensive complications during the 38 wk of pregnancy. When carrying out an ultrasound of the abdominal organs, the following conclusions were obtained: intestinal pneumatosis, moderate reactive changes in the liver and pancreas, signs of chronic cholecystitis, the expansion of the renal sinus in both kidneys, and dilatation of the cups on the left. However, severe extragenital pathology has not been identified, as reflected in the relatively favorable course of pregnancy. Before pregnancy, hormone therapy was conducted using estradiol and micronized progesterone. After the embryo transfer, a standard supporting therapy of estradiol 1.5 mg was assigned, along with micronized progesterone 300 mg, 200 mg, 300 mg, and progesterone oil solution 2.5 ml intramuscularly. When a heartbeat occurs, estradiol is canceled. Table I presents an illustration of the drugs taken by a pregnant woman during pregnancy.
Thus, the woman took:
  From the time of transfer to 6-7 wk, Estradiol 1.5 mg.
  Progesterone 2.5 ml in the form of an oil solution from the moment of transfer to 20 wk.
  Micronized progesterone from the moment of transfer to 36 wk was given. 800 mg micronized progesterone every day for up to 20 wk. and 700 mg after 20 wk. Progesterone stayed at the values of 49.38-64.56-61.08-58.8 ng/ml. At 30 wk, 500 mg was given in 2 doses; however, at 35 wk one evening dose for 7 days was canceled.
  Under LMWH, the dose was maintained once a day under the control of the D-dimer. Because of the premeditated training, the transfer is canceled and resumed when the ultrasound confirms a heartbeat. Upon receipt of the values of the D-dimer 0.178 mg/l-0.162 mg/l (at a rate of 0.23 mg/l). LMWH was canceled 48 hr before the delivery, and continued after the operation daily during stay in the hospital. When discharged from the hospital, a normal hemostasiogram LMWH is received up to 42 days after childbirth.
  From 10-36 wk, acetylsalicylic acid 75 mg was prescribed daily in the evening.
  Calcium preparations, 1.0 gr daily, from 10-38 wk.
  Phosphomycin once in 14 wk.
  Phytourinary antiseptics with courses of 2-3 wk and interruptions of 2-3 wk from 16 wk before childbirth.
  Methyldopa 250 mg once daily for 10 wk prior to delivery.
  Eutirox 75 mg for a long time.
Ultrasound examinations were conducted according to the protocols for diagnosing chromosomal abnormalities (at 13 wk), congenital malformations of the fetus (at 20 wk), and at 16, 20, 24, and 32 wk for cervicometry. At 20 wk, low placentation was diagnosed (3.7 from the internal os). At 32 wk, this diagnosis was withdrawn. Considering IVF, the underlying pathology, the fetus was monitored for chronic arterial hypertension, congenital thrombophilia, and Doppler measurements at 26-27, 30-31, and 32-33 wk, without disturbing the uteroplacental and fetal-placental blood flow. Cardiotocography (CTG) was performed at 34-35 and 37 wk, with no pathology. During pregnancy, the woman gained 18 kg of weight. Blood pressure throughout the observation period remained stable at 110/70-120/80 mm Hg (while taking methyldopa 250 mg once a day from the 10 wk). An increase in blood pressure was noted at 35 and 37 wk of gestation, up to 140/90 mm Hg. Lower extremity edema was observed between wk 32 and 33. However, with the lymphedema characteristic of these women, stable blood pressure and the absence of proteinuria were noted. Thus, a drinking regimen and phytouroantiseptics to increase urine filtration were recommended.
In clinical analyses such as complete blood count, urinalysis, and biochemical blood tests, pathology was not revealed. During the entire observation period, the woman was constantly disturbed by vomiting on an empty stomach in the morning. From the 20 wk, insomnia was observed due to active fetal movement at night. From the outcomes of the therapist, ultrasound of the abdominal organs, and biochemical blood tests, urinalysis did not reveal any pathology, and no action was taken. In addition, other methods that examined the state of the fetus, such as Doppler CTG, did not reveal any pathology. In the 37 wk of gestation, an increase in edema syndrome and systolic blood pressure of 150-160 mm Hg were observed. The patient was hospitalized in a third-level obstetric facility and delivered by cesarean section routinely at 38 wk. Indications for a planned cesarean section included pregnancy, IVF, severe pre-eclampsia, and lack of preparation of the birth canal. The girl was delivered at 2496 gr, a 48 cm increase, with Apgar scores of 7-8. In the postpartum period, on day 2 came colostrum. However, the child received solid foods in insufficient quantities. After discharge, breastfeeding continued, but pediatricians recommended the lure. Breastfeeding lasted approximately one month. Then, the child is entirely shifted to the mixture. Hormone replacement therapy continued for 42 days after birth. At that moment, the woman received estrogen-progestin replacement therapy to reduce her body mass index by 24 kg/m.
The pregnant woman gave informed consent to conduct this study.