Morales M, Chardonnens D, Bottani A, Gersbach-Forrer M, Campana A
Clinique de stérilité et endocrinologie gynécologique, Hôpitaux Universitaires de Genève.
J Gynecol Obstet Biol Reprod (Paris). 1999 Dec;28(8):833-7.
Blepharophimosis-ptosis-epicanthus syndrome (BPES) is a rare genetic condition occurring sporadically and transmitted by autosomal dominant inheritance. Type I BPES is associated with a high incidence of menstrual irregularities and infertility. Its clinical presentation is attributed to either an ovarian resistance to gonadotropins or to a true premature menopause. Two pathophysiological underlying mechanisms have been proposed: one suggests that one or more mechanisms lead to inhibition of early follicular development or follicule atresia. The other raises the possibility that BPES results from microdeletion of genetic material containing at least 2 independent genes. We report a familial case of BPES identified at birth and who required several surgical procedures. Several members of the patient's family are also affected. Early recognition of this condition may allow appropriate counselling and/or treatments including egg donation in case of hypergonadotropic hypogonadism.
睑裂狭小-上睑下垂-内眦赘皮综合征（BPES）是一种罕见的遗传性疾病，呈散发性，由常染色体显性遗传传递。I型BPES与月经不调和不孕的高发病率相关。其临床表现归因于卵巢对促性腺激素的抵抗或真正的过早绝经。已经提出了两种潜在的病理生理机制：一种认为一种或多种机制导致早期卵泡发育抑制或卵泡闭锁。另一种则提出BPES是由包含至少2个独立基因的遗传物质微缺失导致的可能性。我们报告了1例出生时确诊的BPES家族病例，该病例需要多次外科手术。患者家族中的几名成员也受到了影响。尽早识别这种疾病可能有助于进行适当的咨询和/或治疗，包括在促性腺激素性性腺功能减退的情况下进行卵子捐赠。
