July - September 2015, Volume 11, Issue 3

Gorduza V, Petrariu FD

Outcome of Spontaneous Pregnancy in Turner Syndrome

Acta Endo (Buc) 2015, 11 (3): 348-355
doi: 10.4183/aeb.2015.348

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.

Keywords: Turner syndrome , pregnancy with X monosomy, mosaicism, chromosomal hypogonadism, miscarriage.

Correspondence: Florin Dumitru Petrariu MD, “Grigore T. Popa” University of Medicine and Pharmacy Ia?i, Romania, Preventive Medicine, 16 Universitatii Street, Iasi, 700115, Romania, E-mail: fpetrariu@mail.com