Fertility, pregnancy, and medical management of Turner syndrome in the reproductive years

Karnis, Megan Freebury

doi:10.1016/j.fertnstert.2012.08.022

Cited by 62 publications

(50 citation statements)

References 33 publications

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“…The overall risk for major pregnancy complications in TS women is approximately 10% and the risk of maternal death is approximately 3.5% [64]. The risk of aortic dissection is significantly increased during pregnancy, particularly in the third trimester, with mortality from aortic dissection during pregnancy in excess of 100 times the general population risk [57,65]. The rate of aortic dissections associated with TS pregnancies published in case reports is 4.8% [64].…”

Section: Turner Syndrome and Pregnancymentioning

confidence: 99%

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Kriksciuniene

Ostrauskas

Žilaitienė

2015

Endokrynologia Polska

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Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta. Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed. StreszczenieZespół Turnera jest rzadko spotykanym schorzeniem o podłożu genetycznym u kobiet, u których występują między innymi zaburzenia wzrastania, płodności oraz zaburzenia w rozwoju układu sercowo-naczyniowego. Obecnie uważa się, że zespół Turnera jest niezależnym czynnikiem ryzyka rozwoju chorób układu sercowo-naczyniowego. Pomimo istotnego ryzyka rozwoju powikłań, które mogą nawet zagrażać życiu młodych pacjentek, wiele z nich odsyłanych jest do domu bez pogłębionej diagnostyki w kierunku zaburzeń w układzie sercowo-naczyniowym. Należy zauważyć, że chociaż wymiary aorty wstępującej są u wielu pacjentek obarczonych zespołem Turnera prawidłowe, to po uwzględnieniu rzeczywistych wymiarów ciała pacjentki można stwierdzić, że u części z nich aorta jest poszerzona. Opublikowane ostatnio wyniki badań oraz zalecenia kliniczne wskazują na przydatność rezonansu magnetycznego (MRI, magnetic resonance imaging) w diagnostyce zmian organicznych aorty. W publikacji omówiono także nowe możliwości terapeutyczne w przypadku występowania zmian w aorcie, co mogłoby usprawnić leczenie pacjentek z zespołem Turnera. W dziedzinie diagnostyki i leczenia tego zaburzenia genetycznego istnieje jednak nadal wiele nierozwiązanych zagadnień, dlatego też konieczne jest prowadzenie dalszych badań, także o charakterze prospektywnym. Epidemiology, diagnosis and genetics of Turner syndromeTurner syndrome (TS) is a rare congenital disorder caused by sex chromosome haploinsufficiency in a phenotypic female, associated with characteristic clinical features: short stature, primary amenorrhoea and cardiovascular pathology [1,2].The prevalence of TS is 50 per 100,000 live born females in Caucasian populations [2,7]. Prenatal prevalence is much higher than the postnatal, because of the frequent intrauterine mortality [1,37]. If TS is suspected in the intrauterine period, postnatal confirmation must be done [3]. Postnatal diagnosis requires a standard 30-cell karyotype which identifies at least 10% mosaicism with 95% confidence [5,6]. Specific clini...

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Section: Turner Syndrome and Pregnancymentioning

confidence: 99%

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Kriksciuniene

Ostrauskas

Žilaitienė

2015

Endokrynologia Polska

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“…Cerca de 33% das meninas vão desenvolver naturalmente alguns sinais puberais, 10% completarão a puberdade e somente 2% apresentarão uma gravidez espontânea. 10 Embora esta ocorra independente do cariótipo, é mais observada naquelas com alteração estrutural do X ou mosaicismo. 6,9 A gestação em pacientes com ST está relacionada com risco materno-fetal elevado.…”

Section: Discussionunclassified

“…Anormalidades cromossômicas podem ser detectadas no concepto (trissomia do 21, ST). 10 Um estudo de 160 gestantes com ST observou que dos 58% nascidos vivos, 34% apresentaram malformação fetal por anormalidades cromossômicas. 11 Existe também um risco maior de abortos espontâneos e natimortos do que na população geral.…”

Section: Discussionunclassified

“…Estas condições aumentam risco de hipertensão induzida pela gravidez e resultados adversos materno-fetais. 10 Um estudo mostrou um aumento da incidência de doença tireoidiana comparada com aquelas com ST que nunca gestaram. Isso pode ser atribuído ao maior rastreamento de disfunção tireoidiana na gravidez ou na avaliação de infertilidade.…”

Section: Discussionunclassified

“…10 No pré-natal, a função cardíaca deve ser monitorada com depois mensalmente, no terceiro trimestre. 9,15 Um aumento do diâmetro aórtico superior ou igual a 10% entre dois exames 9 O reconhecimento imediato da dissecção pode promover a oportunidade de uma intervenção cirúrgica bem sucedida.…”

Section: Discussionunclassified

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Síndrome de Turner – desfecho de uma gestação espontânea

et al. 2017

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RESUMOObjetivo: a síndrome de Turner afeta aproximadamente 1:2.500 meninas nascidas vivas e decorre da ausência completa ou parcial do segundo cromossomo X. Embora o hipogonadismo e a infertilidade sejam os achados mais frequentes, 2-5 % das mulheres podem engravidar naturalmente. O objetivo deste trabalho é relatar o desfecho de uma gravidez espontânea em portadora de síndrome de Turner e apresentar uma revisão sobre o manejo dessa associação incomum. Relato do caso: paciente com síndrome de Turner diagnosticada aos 8 anos, cariótipo 45,X(4%)/46,XX(96%), apresentou desenvolvimento puberal espontâneo e menarca placentomegalia e polidramnia. A gestação evoluiu para trabalho de parto prematuro, com óbito do recém-nascido após 3 horas de vida. A paciente desenvolveu sintomas de depressão pós-parto, sendo encaminhada para acompanhamento psicológico. Conclusão: a gestação espontânea em uma mulher com síndrome de Turner é um evento raro. Há aumento de risco de malformações fetais, abortos espontâneos e natimortos, uma frequência elevada de complicações maternas e alta taxa de mortalidade. Complicações maternas mais comuns são diabetes gestacional, hipotireoidismo, hipertensão, pré-eclâmpsia, eclâmpsia e risco de dissecção/ ruptura da aorta, sendo fundamental acompanhamento multidisciplinar pré-concepcional e pré-natal.Palavras-chave: Síndrome de Turner. Gravidez de alto risco. Complicações na gravidez. ABSTRACTObjectives: 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.

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Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Badeau

Lindsay

Blais

et al. 2015

Cochrane Database of Systematic Reviews

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Fertility, pregnancy, and medical management of Turner syndrome in the reproductive years

Cited by 62 publications

References 33 publications

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Síndrome de Turner – desfecho de uma gestação espontânea

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

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