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日本特纳综合征患者自发性乳房发育和初潮的发生率

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan.

作者信息

Tanaka Toshiaki, Igarashi Yutaka, Ozono Keiichi, Ohyama Kenji, Ogawa Masamichi, Osada Hisao, Onigata Kazumichi, Kanzaki Susumu, Kohno Hitoshi, Seino Yoshiki, Takahashi Hiroaki, Tajima Toshihiro, Tachibana Katsuhiko, Tanaka Hiroyuki, Nishi Yoshikazu, Hasegawa Tomonobu, Fujita Keinosuke, Yorifuji Tohru, Horikawa Reiko, Yokoya Susumu

机构信息

Tanaka Growth Clinic, Tokyo, Japan ; Turner Syndrome Research Collaboration, Tokyo, Japan.

Igarashi Children's Clinic, Sendai, Japan ; Turner Syndrome Research Collaboration, Tokyo, Japan.

出版信息

Clin Pediatr Endocrinol. 2015 Oct;24(4):167-73. doi: 10.1297/cpe.24.167. Epub 2015 Oct 24.

DOI:10.1297/cpe.24.167
PMID:26568657
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4628951/
Abstract

The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatment course. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group). Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, and spontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breast development was significantly lower in patients with the 45,X karyotype and significantly higher in patients with a structural abnormality of the second X chromosome. The frequency of spontaneous menarche was significantly higher in patients with mosaicism characterized by X monosomy and a cellular line with no structural abnormality of the X chromosome. No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty.

摘要

Turner综合征研究协作组分析了Growject®数据库中关于Turner综合征患者生长激素(GH)治疗的数据,并研究了自然乳房发育和自然月经初潮频率与核型及GH治疗之间的关系。103例患者以0.5 IU/kg/周的剂量开始GH治疗(0.5 IU组),治疗过程中剂量增至0.35 mg/kg/周。另外109例患者以0.35 mg/kg/周的剂量开始GH治疗(0.35 mg组)。212例患者中,77例(36.3%)出现自然乳房发育,31例(14.6%)出现自然月经初潮。45,X核型患者自然乳房发育频率显著较低,而第二条X染色体存在结构异常的患者自然乳房发育频率显著较高。以X单体及无X染色体结构异常细胞系为特征的嵌合体患者自然月经初潮频率显著较高。两个剂量组之间自然乳房发育和自然月经初潮频率均未观察到显著差异,表明GH治疗不会增加自然青春期的频率。

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Hum Reprod Update. 2024 Jul 1;30(4):383-409. doi: 10.1093/humupd/dmae005.
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Chromosomal Abnormalities of Interest in Turner Syndrome: An Update.特纳综合征相关的染色体异常:最新进展
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