Outcome of Spontaneous Pregnancy in Turner Syndrome

Abstract

Turner syndrome (TS) is the most common form of chromosomal hypogonadism in women. Clinical features are correlated with the haploinsufficiency of X genes which produces a precocious ovarian degenerescence, sexual hormones secretion deficiency and primary sterility. The review of medical literature reported 87 patients with different cytogenetic form of TS that have 185 pregnancies. In 45,X/46,XX women were described 61 pregnancies in 32 patients. In X homogeneous monosomy were described 43 pregnancies in 21 patients followed by X trisomy mosaicism which was identified in 9 women with 45,X/47,XXX formula (20 pregnancies) and at 11 patients was described 45,X/46,XX/47,XXX formula (35 pregnancies). An increased risk for abnormal pregnancies was proved by frequent miscarriages: 30 cases in 45,X/46,XX, followed by 16 in 45,X/46,XX/47,XXX and 13 in X homogeneous monosomy. Other possible gestational complications in patients with TS could be: dissection of aorta, endocrine diseases (diabetes mellitus, hypothyroidism), arterial hypertension and eclampsia, dystocia. The spontaneous menarche and pregnancy in TS patients are rare events, and usually the gestation is marked by obstetrical complications. The patients with 45,X/46,XX chromosomal formula have the highest risk for chromosomal abnormality in foetus and for miscarriage. The worst prognosis was cited for TS patients with partial X monosomy.

Mosaic Turner Syndrome With Multiple Spontaneous Pregnancies: A Case Report

“…Previous literature reviews on spontaneous pregnancies (SP) in TS have presented multiple case reports of 45,X TS patients who were able to birth healthy newborns [ 7 , 8 ]. However, the percentage of monosomy TS patients with SPs compared to other chromosomal variations of TS was notably lower [ 7 , 9 ]. In mosaic TS patients, follicular atresia is slowed, with an increased percentage of chromosomally normal cell lines [ 5 ].…”

“…In mosaic TS patients, follicular atresia is slowed, with an increased percentage of chromosomally normal cell lines [ 5 ]. Despite this, an interesting finding in one of the literature reviews was that despite the increased possibility of SP for mosaic TS patients, the chances of congenital anomaly are higher than those of 45,X monosomy TS patients [ 9 ].…”

“…TS patients are more susceptible to comorbidities during pregnancy. Abortion is reportedly experienced in a range between 30.8% and 67.3% of SPs in the first trimester [ 7 , 12 , 13 ], and, in one review, was mostly found in a mosaic 45,X/46,XX patients [ 9 ]. Preterm births above 32 weeks were evidently increased in TS patients in one cross-sectional study [ 14 ].…”

“…Congenital malformations such as cerebral palsy, cleft lip/palate, hydrocephalus, ambiguous genitalia, and TS were present in 11 infants across 160 TS patients’ pregnancies, two of whom were TS patients in the literature review by Mavridi et al [ 7 ]. In a review of 185 TS pregnancies, eight resulted in stillborn births, six infants had congenital anomalies, three had Down syndrome, and 27 had 45,X TS [ 9 ]. Infants that are small for their gestational age were reported in 31.8% of patients [ 14 ].…”