Discordant growth pattern and ovarian function in monozygotic twins with 45,X/46,XX mosaicism

被引：6
|
作者：
Lebl, J
Zahradníková, M
Vlasak, I
Neuhuber, F
机构：
[1] Charles Univ, Dept Pediat, Fac Med 3, Sch Med 3, CZ-10081 Prague 10, Czech Republic
[2] Landeskrankenanstalten Salzburg, Salzburg, Austria
[3] Inst Legal Med, Salzburg, Austria
来源：
HORMONE RESEARCH | 2001年 / 55卷 / 02期
关键词：
twins; monozygotic; Turner syndrome; mosaicism; growth; ovarian function; growth hormone; estradiol; insulin-like growth factor-I;
D O I：
10.1159/000049978
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Background. We report on phenotypically discordant female monozygotic twins with 45X/46,XX mosaicism in both lymphocytes and fibroblasts. Results:At 11.5 years, twin A was prepubertal, her height was 126.8 cm (-3.15 SD), bone age (BA) 9.7 years (TW2), FSH 47 IU/I and IGF-I 280 ng/ml (-0.89 SD), but twin B was pubertal (P2, B3), her height was 143.4 cm (-0.92 SD), BA 13.6 years (TW2), FSH 3.4 IU/I and IGF-I 380 ng/ml (-0.21 SD). One year later, twin A had grown 11.1 cm due to growth hormone therapy and had IGF-I 1,400 ng/ml (+/-5.91 SM, whereas the growth velocity of twin B (no therapy) was 5.9 cm, IGF-I 540 ng/ml (+0.57 SD) and she started regular menstruation at 12.1 years. Conclusion: To our knowledge, this is the first report on monozygotic twins with Turner mosaicism in both lymphocytes and fibroblasts who developed a discordant phenotype probably due to an unequal distribution of the two cell lines in distinct tissues. Copyright (C) 2001 S. Karger AG, Basel.
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收藏
页码：102 / 105
页数：4
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