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一名患有与Ⅰ型睑裂狭小、上睑下垂、内眦赘皮综合征相关的卵巢早衰女性的妊娠。病例报告。

Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report.

作者信息

Roth Lauren W, Alvero Ruben

机构信息

Department of Obstetrics and Gynecology, University of Colorado, Denver, Colorado 80045, USA.

出版信息

J Reprod Med. 2014 Jan-Feb;59(1-2):87-9.

Abstract

BACKGROUND

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) type I is a rare disorder that causes a recognizable pattern of eye abnormalities and is associated with premature ovarian insufficiency. There is no data to guide the treatment of these patients when presenting with infertility.

CASE

A 30-year-old, nulligravid woman with premature ovarian insufficiency associated with BPES type I presented to care secondary to a desire to conceive. Ovarian stimulation with gonadotropins was performed, and the patient conceived and delivered viable twins.

CONCLUSION

It is not known whether premature ovarian insufficiency associated with BPES type I follows the same clinical course as idiopathic premature ovarian insufficiency. In patients with BPES type I who present with infertility, ovarian stimulation with gonadotropins may be a reasonable therapeutic option.

摘要

背景

I型睑裂狭小、上睑下垂、内眦赘皮综合征(BPES)是一种罕见的疾病,可导致明显的眼部异常模式,并与卵巢早衰相关。当这些患者出现不孕时,尚无数据指导其治疗。

病例

一名30岁未孕女性,患有与I型BPES相关的卵巢早衰,因渴望怀孕前来就诊。使用促性腺激素进行了卵巢刺激,患者成功受孕并分娩出一对活产双胞胎。

结论

与I型BPES相关的卵巢早衰是否与特发性卵巢早衰具有相同的临床病程尚不清楚。对于出现不孕的I型BPES患者,使用促性腺激素进行卵巢刺激可能是一种合理的治疗选择。

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