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Case Reports and Images in Obstetrics and Gynecology

 
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Blepharophimosis ptosis epicanthus inversus syndrome (BPES): A rare cause of primary ovarian insufficiency
Dhiman Niharika1, Chowdhuri Sandipan2, Gupta Vinita3, Chaturvedi Jaya4, Mundhra Rajlaxmi5
1Assistant Professor, Department of Obstetrics & Gynaecology, All India Institute of Medical Sciences Rishikesh (AIIMS Rishikesh) Rishikesh, Uttarakhand, India.
2Senior Resident, Department of Obstetrics & Gynaecology, All India Institute of Medical Sciences Rishikesh (AIIMS Rishikesh) Rishikesh, Uttarakhand, India.
3Assistant Professor, Department of Ophthalmology, All India Institute of Medical Sciences Rishikesh (AIIMS Rishikesh) Rishikesh, Uttarakhand, India.
4Professor and Head of the Department, Department of Obstetrics & Gynaecology, All India Institute of Medical Sciences Rishikesh (AIIMS Rishikesh) Rishikesh, Uttarakhand, India.
5Senior Resident, Department of Obstetrics & Gynaecology, All India Institute of Medical Sciences Rishikesh (AIIMS Rishikesh) Rishikesh, Uttarakhand, India.

Article ID: 100012Z08DN2016
doi:10.5348/Z08-2016-12-CR-5

Address correspondence to:
Sandipan Chowdhuri
Room No 220
SR/JR Hostel, Residence Complex, AIIMS Rishikesh
Pashulok, Virbhadramarg, Rishikesh, Uttarakhand
India, Pin 249203

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How to cite this article:
Niharika D, Sandipan C, Vinita G, Jaya C, Rajlaxmi M. Blepharophimosis ptosis epicanthus inversus syndrome (BPES): A rare cause of primary ovarian insufficiency. J Case Rep Images Gynecol Obstet 2016;2:20–24.


Abstract
Introduction: Most common cause of primary ovarian insufficiency is idiopathic (80–90%). Other causes are chromosomal, genetic, autoimmune, metabolic, infectious, and iatrogenic. Blepharophimosis ptosis epicanthus-inversus syndrome (BPES) is a rare genetic cause of primary ovarian insufficiency. It mainly affects development of eyelids and has autosomal dominant inheritance. The BPES is of two type, type I and II. Both of which include the eyelid malformations and other facial features. Type I is associated with primary ovarian insufficiency in women. We studied three cases who presented with BPES in Gynecology OPD of AIIMS Rishikesh over a period of six months. Each case was unique, representing different clinical features and treatment requirements. Thus this case series will expose readers about varied spectrum of BPES and treatment protocol.
Case Report: Case 1: A 28-year-old lady presented with dimness of vision since early childhood primary infertility and secondary amenorrhea for 10 years, hot flush for last five years. On examination she had bilateral blepharophimosis, under corrected bilateral ptosis, epicanthus inversus and telecanthus. Her clinical and biochemical feature suggested primary ovarian insufficiency. So she was a case of BPES type I. She was advised hormone replacement therapy and calcium supplementation and offered corrective ocular surgery. She responded to the treatment. Case 2: A 36-year-old lady with visual dimness, secondary infertility and secondary amenorrhea for eight years, hot flush for last five years. On examination she had bilateral blepharophimosis, bilateral ptosis, epicanthus inversus and telecanthus. Her clinical and biochemical feature suggested primary ovarian insufficiency. So she was a case of BPES type I. She was advised hormone replacement therapy and calcium supplementation and offered corrective ocular surgery. She responded to the treatment. Case 3: An 11 years and girl with bilateral Blepharophimosis, bilateral ptosis, epicanthus inversus and telecanthus. She was clinically diagnosed as BPES and offered corrective ocular surgery.
Conclusion: Consciousness about clinical presentation of BPES along with importance of early diagnosis, counseling, prompt treatment of infertility and hypoestrogenic state and corrective ocular surgery should be should be increase among clinicians.

Keywords: Blepharophimosis ptosis epicanthus-inversus syndrome (BPES), Primary ovarian insufficiency, Ptosis, Early menopause, Secondary amenorrhea


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Author Contributions:
Dhiman Niharika – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Chowdhuri Sandipan – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Gupta Vinita – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Chaturvedi Jaya – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Mundhra Rajlaxmi – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of submission
The corresponding author is the guarantor of submission.
Source of support
None
Conflict of interest
Authors declare no conflict of interest.
Copyright
© 2016 Dhiman Niharika et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.



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