一名患有45,X/47,XXX嵌合型特纳综合征患者的自然妊娠：病例报告及文献综述
A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature.
作者信息
Mavridi Artemis, Ntali Georgia, Theodora Marianna, Stamatelopoulos Kimon, Michala Lina
机构信息
First Department of Obstetrics Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Department of Endocrinology - Diabetes, Evaggelismos Hospital, Athens, Greece.
出版信息
J Pediatr Adolesc Gynecol. 2018 Dec;31(6):651-654. doi: 10.1016/j.jpag.2018.07.005. Epub 2018 Aug 20.
BACKGROUND
Turner syndrome is a chromosomal abnormality, due to a total or partial loss of 1 of the X chromosomes and is mostly characterized clinically by short stature and primary ovarian insufficiency. Spontaneous pregnancies are rare (5%) and of relatively high risk. This is 1 of few reported cases of spontaneous conception and favorable prognosis in a patient with Turner syndrome and a 45,X/47,XXX karyotype.
CASE
A 21-year-old woman with Turner mosaicism (45,X/47,XXX) who had a full-term, uncomplicated pregnancy after spontaneous conception, gave birth to a healthy female (46,XX) infant.
SUMMARY AND CONCLUSION
Spontaneous pregnancies in women with Turner syndrome are a rarity. Fertility preservation methods are being discussed. Due to the high reported incidence of neonatal, obstetric, maternal, and especially cardiovascular complications in those pregnancies, close monitoring is essential.
背景
特纳综合征是一种染色体异常疾病，由于X染色体之一完全或部分缺失，临床上主要表现为身材矮小和原发性卵巢功能不全。自然受孕很少见（5%）且风险相对较高。这是少数报道的特纳综合征和45,X/47,XXX核型患者自然受孕且预后良好的病例之一。
病例
一名21岁患有特纳嵌合体（45,X/47,XXX）的女性自然受孕后足月分娩，未出现并发症，产下一名健康的女婴（46,XX）。
总结与结论
特纳综合征女性自然受孕很罕见。目前正在讨论生育力保存方法。鉴于报道中这些妊娠的新生儿、产科、母体尤其是心血管并发症的发生率很高，密切监测至关重要。
Zotero 插件