Síndrome de Turner : desfecho de uma gestação espontânea

Abstract

Objectives: Turner syndrome affects approximately one in 2500 live-born females and results from the complete or partial absence of the second sex chromosome. Although hypogonadism and infertility are the most frequent features, 2-5% may present spontaneous pregnancy. The purpose of this paper is to report the outcome of a spontaneous pregnancy in a patient with Turner syndrome and to review management of this unusual association. Case report: the patient diagnosed with Turner syndrome at 8 years old, with 45,X(4%)/46,XX(96%) karyotype, had spontaneous pubertal development and menarche at 15 years old. Spontaneous pregnancy occurred at age 28 and at the 32nd week of gestation ultrasound evaluation revealed hydrops fetalis, placentomegaly and polyhydramnios. The patient developed complications, including preterm birth and newborn death after three hours. Later she presented with postpartum depression. Conclusion: spontaneous pregnancy in woman with Turner syndrome is a rare event. There is an increased risk of chromosomal abnormalities, miscarriages and stillbirths, as well as an increased frequency of complications during pregnancy and higher mortality. The most common complications are gestational diabetes, hypothyroidism, hypertension, preeclampsia, eclampsia and increased risk of aortic dissection/rupture. These life-threatening conditions warrant multidisciplinary counseling prior to conception and during the prenatal period.