Graf M, Distler W, Schnürch H G, Majewski F
Geburtshilfe Frauenheilkd. 1986 Mar;46(3):187-9. doi: 10.1055/s-2008-1036192.
Combined blepharophimosis, ptosis, and epicanthus inversus (BPEI) represent a rare syndrome with autosomal dominant transmission. In affected females it can be associated with infertility. In this case report we could follow the development of primary ovarian failure in a 28-year old woman with BPEI by repeated hormone determinations. Endocrinological and morphological results give good evidence of increasing gonadotropin resistance on the ovarian level.
睑裂狭小、上睑下垂和内眦赘皮综合征（BPEI）是一种罕见的常染色体显性遗传综合征。在患病女性中，它可能与不孕有关。在本病例报告中，我们通过反复进行激素测定，追踪了一名患有BPEI的28岁女性原发性卵巢功能衰竭的发展过程。内分泌学和形态学结果充分证明了卵巢水平上促性腺激素抵抗的增加。
