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Genetic aspects of premature ovarian failure: a literature review.原发性卵巢功能不全的遗传学研究进展:文献综述
Arch Gynecol Obstet. 2011 Mar;283(3):635-43. doi: 10.1007/s00404-010-1815-4. Epub 2010 Dec 29.
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AMIA Annu Symp Proc. 2009 Nov 14;2009:391-5.
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The clandestine uterus: or how the uterus escapes detection prior to puberty.隐匿子宫:青春期前子宫如何逃过检测。
BJOG. 2010 Jan;117(2):212-5. doi: 10.1111/j.1471-0528.2009.02413.x.
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Clinical practice. Primary ovarian insufficiency.临床实践。原发性卵巢功能不全。
N Engl J Med. 2009 Feb 5;360(6):606-14. doi: 10.1056/NEJMcp0808697.
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Non-chromosomal, non-iatrogenic premature ovarian failure in an adolescent population: a case series.
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青少年原发性卵巢功能不全:病例系列

Primary ovarian insufficiency in adolescents: a case series.

作者信息

Pederson Julia, Kumar Rajiv B, Adams Hillard Paula J, Bachrach Laura K

机构信息

Stanford University School of Medicine, Room H314, 300 Pasteur Drive, Stanford, CA USA.

Department of Pediatrics, Stanford University School of Medicine, Stanford, CA USA.

出版信息

Int J Pediatr Endocrinol. 2015;2015(1):13. doi: 10.1186/s13633-015-0009-z. Epub 2015 May 15.

DOI:10.1186/s13633-015-0009-z
PMID:25983758
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4433018/
Abstract

BACKGROUND

Primary ovarian insufficiency (POI) is characterized by 4 to 6 months of amenorrhea and elevated serum FSH and LH in females less than 40 years. Ovarian insufficiency is uncommon in pediatrics and typically results from a chromosomal abnormality or treatment for malignancy. Idiopathic POI in which no apparent precipitant is identified is even rarer. After encountering three teens with idiopathic POI in recent months, we utilized an informatics-enabled search of the electronic medical records from our hospital to identify all cases of idiopathic POI presenting from 1998-2013.

CASES PRESENTATION

15 girls (ages 14.4 to 17.9 years) met criteria for idiopathic POI. At diagnosis, breast development ranged from Tanner stage 1 to 5; 6 of 15 patients had secondary amenorrhea. All patients presented in the past 11 years and 13 of 15 in the past 5 years.

CONCLUSIONS

In this first case series of POI from the United States, we observed a clustering at our institution in recent years. If an increased incidence of idiopathic POI is identified at other institutions, further investigation into potential environmental and genetic precipitants is warranted.

摘要

背景

原发性卵巢功能不全(POI)的特征为40岁以下女性出现4至6个月的闭经以及血清促卵泡激素(FSH)和促黄体生成素(LH)升高。卵巢功能不全在儿科并不常见,通常由染色体异常或恶性肿瘤治疗引起。未发现明显诱因的特发性POI更为罕见。在最近几个月遇到三名患有特发性POI的青少年后,我们利用医院电子病历的信息检索功能,识别出1998年至2013年期间所有特发性POI病例。

病例介绍

15名女孩(年龄在14.4至17.9岁之间)符合特发性POI的标准。诊断时,乳房发育处于坦纳分期1至5期;15名患者中有6名出现继发性闭经。所有患者均在过去11年内就诊,其中15名患者中有13名在过去5年内就诊。

结论

在这个来自美国的首个POI病例系列中,我们观察到近年来在我们机构出现了病例聚集现象。如果在其他机构发现特发性POI的发病率增加,有必要进一步调查潜在的环境和遗传诱因。