特纳综合征的嵌合型

Q4 Medicine
Abdurahman Laqif, Agung Sari Wijayanti, A. Moelyo, Uki Retno Budihastuti, Eriana Melinawati
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引用次数: 0

摘要

目的报告一例特纳综合征镶嵌型乳房发育障碍病例。特纳综合征是一种染色体疾病,以身高矮小和原发性卵巢功能不全为特征,每 2500 名女性新生儿中就有一人患此病。当单体 X 在发育过程中仅在少数细胞中出现时,就可能发生嵌合。特纳综合征嵌合型的临床表现不典型,症状的严重程度因受影响细胞的数量而异。本病例讨论了第二性征发育的问题,包括轻度雄激素过高,并探讨了联合激素治疗如何有助于促进第二性征发育。方法:病例报告。病例:一名 21 岁的女性主诉乳房没有增大。她的内外生殖器正常,月经周期规律。核型检查显示她的染色体为 45,X/46,XX(1%/99%),雌二醇水平正常,睾酮水平升高(显示轻度雄激素过多)。患者接受了两个周期的激素治疗,使用炔雌醇和屈螺酮,结果乳房发育从坦纳一期进展到坦纳二期。结论特纳综合征的嵌合是合理的,临床症状的严重程度与缺陷染色体的数量相关。特纳综合征的嵌合表现各不相同,因此应针对具体症状进行治疗。一些特纳综合征女孩的乳房可以发育,但也可能出现乳房发育障碍,这与雌激素活性和雌激素受体敏感性有关。虽然乳房发育障碍的确切原因尚不清楚,但在这种情况下使用雌激素可以改善第二性征。关键词:轻度雄激素过多;嵌合;特纳综合征
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Mosaic Form of Turner Syndrome
Objective: To report a case of breast growth disorder in a mosaic form of Turner Syndrome. Turner syndrome is a chromosomal condition characterized by small height and primary ovarian insufficiency that affects one in every 2500 female births. Mosaicism is likely to occur when monosomy X develops in only a few cells during development. The clinical presentation of Turner syndrome mosaicism is atypical, with symptom severity varying based on the number of affected cells. This case discusses issues with secondary sex development, including mild hyperandrogenism, and explores how combination hormonal treatment can aid in enhancing secondary sex development. Method: Case Report. Case: A 21-year-old woman presented with chief complaint of the lack of breast enlargement. She exhibited normal genitalia internally and externally and had a regular menstrual cycle. Karyotyping revealed a mosaic pattern of 45, X/46, XX (1 percent/99%) with normal estradiol levels and elevated testosterone levels (indicating mild hyperandrogenism). The patient underwent two cycles of hormone therapy using Ethinyl Estradiol and Drospirenone, resulting in breast growth progression from Tanner stage 1 to Tanner stage 2. Conclusion: Mosaicism in Turner syndrome is plausible, and the severity of clinical symptoms correlates with the number of defective chromosomes. The presentation of Turner syndrome mosaicism varies, and therapy should be tailored to address specific symptoms. While breast development is observed in some girls with Turner Syndrome, instances of breast growth disorder may occur, involving estrogen activity and estrogen receptor sensitivity. Although the exact cause of impaired breast growth remains unknown, administering estrogen in such cases can improve secondary sexual characteristics. Keywords: mild hyperandrogenism, mosaicism, turner syndrome
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来源期刊
Indonesian Journal of Obstetrics and Gynecology
Indonesian Journal of Obstetrics and Gynecology Medicine-Pathology and Forensic Medicine
CiteScore
0.10
自引率
0.00%
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0
审稿时长
24 weeks
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