Kauffman Robert P, Castracane V Daniel
Department of Obstetrics and Gynecology, Texas Tech University Health Science Center, Amarillo, Texas 79106, USA.
J Womens Health (Larchmt). 2003 Jun;12(5):513-20. doi: 10.1089/154099903766651649.
Autoimmune polyglandular syndromes (APS) are a series of disorders characterized by autoimmunity against two or more endocrine organs. Premature ovarian failure (POF) may also have an autoimmune origin and, when accompanied by other autoimmune endocrinopathies, may be part of the APSs. Onset of autoimmune ovarian failure usually occurs in childhood, adolescence, or adulthood, and as a result, fertility may be severely compromised.
A 26-year-old women with secondary amenorrhea, Addison's disease, and autoimmune hypothyroidism requested infertility evaluation. Examination, transvaginal ultrasonography, endocrine evaluation, and ovarian biopsy were performed. 21-Hydroxylase and antithyroid antibodies were demonstrated, but ovarian steroid cell antibodies (StCA) were absent at the time of her infertility evaluation. Transvaginal sonography demonstrated only a few ovarian follicles. An ovarian biopsy revealed lymphocytic infiltration of the ovary. This presentation is consistent with APS type II accompanied by autoimmune POF.
Unlike APS types I and III, autoimmune POF is more commonly encountered with APS types I and III than with APS type II. An autoimmune response to steroidogenic enzymes and ovarian steroid cells appears to mediate destruction of ovarian function. Although immunotherapy with corticosteroids (with or without in vitro fertilization [IVF]) may be successful in limited cases where several follicles are present, oocyte donation with IVF may be the best option for the patient seeking fertility, particularly in the absence of ovarian follicles.
Advances in molecular genetics may be valuable in predicting and counseling women at risk for APS and POF, and cryopreservation of ovarian tissue may offer hope to affected unmarried young women. It is reasonable to suggest that children and reproductive aged women with one autoimmune disorder should be periodically screened for other autoimmune disorders.
自身免疫性多腺体综合征（APS）是一系列以针对两个或更多内分泌器官的自身免疫为特征的疾病。卵巢早衰（POF）也可能有自身免疫起源，当伴有其他自身免疫性内分泌病时，可能是APS的一部分。自身免疫性卵巢早衰通常发生在儿童期、青春期或成年期，因此生育能力可能会严重受损。
一名26岁继发性闭经、患有艾迪生病和自身免疫性甲状腺功能减退的女性要求进行不孕症评估。进行了检查、经阴道超声检查、内分泌评估和卵巢活检。检测到21-羟化酶和抗甲状腺抗体，但在不孕症评估时未检测到卵巢类固醇细胞抗体（StCA）。经阴道超声检查仅发现少数卵巢卵泡。卵巢活检显示卵巢有淋巴细胞浸润。此表现符合伴有自身免疫性POF的II型APS。
与I型和III型APS不同，自身免疫性POF在I型和III型APS中比在II型APS中更常见。对类固醇生成酶和卵巢类固醇细胞的自身免疫反应似乎介导了卵巢功能的破坏。尽管在有多个卵泡的有限病例中，使用皮质类固醇进行免疫治疗（无论是否联合体外受精[IVF]）可能会成功，但对于寻求生育的患者，尤其是在没有卵巢卵泡的情况下，IVF联合卵母细胞捐赠可能是最佳选择。
分子遗传学的进展可能有助于预测和为有APS和POF风险的女性提供咨询，卵巢组织冷冻保存可能为受影响的未婚年轻女性带来希望。建议患有一种自身免疫性疾病的儿童和育龄妇女应定期筛查其他自身免疫性疾病。
