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A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature

Mavridi, Artemis ; Ntali, Georgia ; Theodora, Marianna ; Stamatelopoulos, Kimon ; Michala, Lina

Journal of pediatric & adolescent gynecology, 2018-12, Vol.31 (6), p.651-654 [Periódico revisado por pares]

United States: Elsevier Inc

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Título:
A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature
Autor: Mavridi, Artemis ; Ntali, Georgia ; Theodora, Marianna ; Stamatelopoulos, Kimon ; Michala, Lina
Assuntos: Chromosomes, Human, X - genetics ; Disorder of sex development ; Female ; Fertility - genetics ; Fertility preservation ; Humans ; Karyotype ; Live Birth ; Mosaicism ; Pregnancy ; Pregnancy, High-Risk - genetics ; Primary Ovarian Insufficiency - genetics ; Primary Ovarian Insufficiency - physiopathology ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development - genetics ; Sex Chromosome Disorders of Sex Development - physiopathology ; Spontaneous pregnancy ; Trisomy - genetics ; Trisomy - physiopathology ; Turner syndrome ; Turner Syndrome - genetics ; Turner Syndrome - physiopathology ; X/XXX mosaicism ; Young Adult
É parte de: Journal of pediatric & adolescent gynecology, 2018-12, Vol.31 (6), p.651-654
Notas: ObjectType-Case Study-3
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Review-1
ObjectType-Feature-5
ObjectType-Report-2
ObjectType-Article-4
Descrição: 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. 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. 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.
Editor: United States: Elsevier Inc
Idioma: Inglês

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