卵巢抵抗综合征和早发性卵巢功能不全诊断与个体化管理进展

doi:10.3969/j.issn.1006-5725.2025.01.024

Abstract

Abstract:

Resistant ovary syndrome （ROS） and premature ovarian insufficiency （POI） fall under the category of hypogonadotropic amenorrhea， sharing similar clinical features that often pose challenges in differentiation. ROS can be easily misdiagnosed as POI， which presents a significant obstacle to subsequent treatment. Therefore， it is crucial for patients with fertility requirements to have a clear understanding of the etiology， clinical features， and diagnostic criteria of ROS and POI in order to establish an early diagnosis and develop an appropriate treatment plan. This article provides a systematic and comprehensive discussion on the research progress regarding the etiology and pathogenesis， clinical features and diagnosis， as well as individualized management of ROS and POI. The aim is to offer reference for clinicians in achieving early clarification of diagnoses， avoiding misdiagnosis or mistreatment， while assisting patients in improving symptoms and realizing their fertility aspirations through personalized management.

Key words: resistant ovary syndrome, premature ovarian insufficiency, diagnosis, individual management

CLC Number:

R715.5

Dandan SHANG,Ping LIU,Lizhen LIU,Yiwei PANG,Chao ZHOU. Diagnosis and advances in individualized management of resistant ovary syndrome and premature ovarian insufficiency[J]. The Journal of Practical Medicine, 2025, 41(1): 146-152.

Figures/Tables 3

Tab.1

Fig.1

Tab.2

References 49

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患者	报道年龄	闭经类型	FSH水平/（IU/L）	cDNA变化	氨基酸变化（区域）	临床意义	年份/参考文献
1	33岁	继发性	38.18 ~ 42.41	c.-29G > A（Het） c.299 + 33C > T（Het） c.919G > A（Het） c.2039G >A（Het）	/ / p.Ala307Thr p.Ser680Asn	良性良性良性良性	2016/^［7］
2	31岁	原发性	43 ~ 62	c.479 T > C（Het） c.1672A > C（Het）	p.Ile160Thr（ECD） p.Asn558His（IL3）	致病性意义不明确	2019/^［8］
3	25岁	原发性	41.17	c.419delA（Hom）	p.Lys140Argfs*16（ECD）	致病性	2019/^［9］
4	27岁	原发性	83.50	c.1510C > T（Hom）	p.Pro504Ser（TMD）	致病性	2019/^［9］
5	28岁	继发性	57.32	c.44G > A（Com）	p.Gly15Asp（ECD）	致病性	2019/^［9］
6*¹	27岁	继发性	84.95	c.182T > A（Com） c.2062C > A（Com）	p.Ile61Asn（ECD） p.Pro688Thr（ICD）	致病性致病性	2020/^［10］
7**¹	30岁	原发性	94.58	c.182T > A（Com） c.2062C > A（Com）	p.Ile61Asn（ECD） p.Pro688Thr（ICD）	致病性致病性	2020/^［10］
8	29岁	继发性	35.98 ~ 37.73	c.1384G > C（Com） c.1862C > T（Com）	p.Ala462Pro（TMD） p.Ala621Val（TMD）	致病性致病性	2022/^［11］
9*²	29岁	继发性	15.63	c.392G > A（Com） c.310A > G（Com）	p.Gly131Asp p.Lys104Glu	可能致病性可能致病性	2021/^［12］
10**²	30岁	原发性	/	c.392G > A（Com） c.310A > G（Com）	p.Gly131Asp p.Lys104Glu	可能致病性可能致病性	2021/^［12］
11	24岁	原发性	18.40	c.299+2T > G（Hom）	/	致病性	2023/^［13］

年龄段	月经/子宫状态/避孕情况	雌激素	孕激素
11 ~ 13岁	-	17β-雌二醇每天0.25 ~ 0.5 mg	-
14 ~ 16岁	月经来潮前	17β-雌二醇从起始剂量逐渐增加	-
14 ~ 16岁	月经来潮后	17β-雌二醇从起始剂量逐渐增加	取决于临床评估
16岁-自然绝经年龄	无子宫	17β-雌二醇每天2 mg 戊酸雌二醇每天2 mg 雌二醇凝胶每天1.5 mg或半水合雌二醇皮贴每天50 μg	-
	有子宫（无避孕要求）	17β-雌二醇每天2 mg 戊酸雌二醇每天2 mg 雌二醇凝胶每天1.5 mg或半水合雌二醇皮贴每天50 μg	地屈孕酮每天10 mg（月经第14 ~ 28天）微粒化黄体酮胶丸每天100 ~ 300 mg（月经第14 ~ 28天）
	有子宫（无避孕要求）	复方制剂：雌二醇片-雌二醇地屈孕酮片
	有子宫（要求避孕）	复方口服避孕药或植入左炔诺孕酮宫内节育器

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Diagnosis and advances in individualized management of resistant ovary syndrome and premature ovarian insufficiency

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