Gupta Abhinav Kumar, Gupta Deepak Chand, Khan Saqib Ahmad, Razi Syed Mohd
Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Meerut, India.
Sri Sai Hospital, Moradabad, India.
J ASEAN Fed Endocr Soc. 2017;32(1):68-71. doi: 10.15605/jafes.032.01.13. Epub 2017 May 9.
Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF). BPES is of two types, type I and type II. Type I is associated with POF along with eyelid malformations, while Type 2 has only eyelid malformations. Here, we report a family of BPES, in whom two sisters presented with secondary amenorrhea. On eye examination, they have blepharophimosis, ptosis, epicanthus inversus and telecanthus. Investigations revealed hypergonadotropic hypogonadism. Their father also has similar eye manifestations. Diagnosis of BPES type I was made and both were started on hormone replacement therapy. To make timely diagnosis of BPES, every patient with POF should specifically be checked for eye manifestations.
睑裂狭小-上睑下垂-内眦赘皮综合征（BPES）是一种相对罕见的先天性疾病，通常表现为典型的眼部症状。在某些情况下，它与卵巢早衰（POF）有关。BPES有两种类型，I型和II型。I型与POF以及眼睑畸形有关，而2型仅伴有眼睑畸形。在此，我们报告一个BPES家族，其中两姐妹出现继发性闭经。眼部检查发现她们有睑裂狭小、上睑下垂、内眦赘皮和眼距过宽。检查显示为高促性腺激素性性腺功能减退。她们的父亲也有类似的眼部表现。诊断为I型BPES，并对两人均开始进行激素替代治疗。为了及时诊断BPES，每个POF患者都应特别检查眼部表现。
