Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review

被引：29

作者：

Bouchlariotou, Sofia ^{[1
]}

Tsikouras, Panagiotis ^{[1
]}

Dimitraki, Marina ^{[1
]}

Athanasiadis, Apostolos ^{[2
]}

Papoulidis, Ioannis ^{[2
]}

Maroulis, George ^{[1
]}

Liberis, Anastasios ^{[1
]}

Liberis, Vasileios ^{[1
]}

机构：

[1] Democritus Univ Thrace, Dept Obstet & Gynecol, Alexandroupolis 68100, Greece

[2] Aristotle Univ Thessaloniki, Dept Obstet & Gynecol, GR-54006 Thessaloniki, Greece

来源：

JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE | 2011年 / 24卷 / 05期

关键词：

Fertility; Turner's syndrome; 45; X/46; XXX mosaicism; CHROMOSOME-ABNORMALITIES; PATIENT; WOMEN; FERTILITY; FEMALE;

D O I：

10.3109/14767058.2010.520769

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47, XXX cell line in Turner's syndrome.

引用

页码：668 / 672

页数：5

共 39 条

[1] Turner's syndrome and fertility: current status and possible putative prospects [J].

Abir, R ;

Fisch, B ;

Nahum, R ;

Orvieto, R ;

Nitke, S ;

Ben Rafael, Z .

HUMAN REPRODUCTION UPDATE, 2001, 7 (06) :603-610

[2]

Akbas E, 2009, GENET COUNSEL, V20, P141

[3]

AYUSO MC, 1984, CLIN GENET, V26, P591

[4]

Bender BG, 1999, AM J MED GENET, V88, P200, DOI 10.1002/(SICI)1096-8628(19990416)88:2<200::AID-AJMG18>3.0.CO

[5]

2-3

[6] Fertility Preservation in Girls with Turner Syndrome: Prognostic Signs of the Presence of Ovarian Follicles [J].

Birgit, Borgstrom ;

Julius, Hreinsson ;

Carsten, Rasmussen ;

Maryam, Sheikhi ;

Gabriel, Fried ;

Victoria, Keros ;

Margareta, Fridstrom ;

Outi, Hovatta .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (01) :74-80

[7] Fertility and pregnancy outcome in Danish women with Turner syndrome [J].

Birkebaek, NH ;

Crüger, D ;

Hansen, J ;

Nielsen, J ;

Bruun-Petersen, G .

CLINICAL GENETICS, 2002, 61 (01) :35-39

[8] Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: Implications for prenatal counseling and estrogen therapy at puberty [J].

Blair, J ;

Tolmie, J ;

Hollman, AS ;

Donaldson, MDC .

JOURNAL OF PEDIATRICS, 2001, 139 (05) :724-728

[9] 21-Hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity [J].

Cohen, MA ;

Sauer, MV ;

Lindheim, SR .

FERTILITY AND STERILITY, 1999, 72 (05) :937-939

[10] Turner's syndrome and pregnancies after oocyte donation [J].

Foudila, T ;

Söderström-Anttila, V ;

Hovatta, O .

HUMAN REPRODUCTION, 1999, 14 (02) :532-535

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