Journal of

Case Reports and Images in Obstetrics and Gynecology

 
     
Case Report
 
Primary ovarian insufficiency in a xeroderma pigmentosum patient with consanguineous parents
Abdullah K. Agabawi1, Wafa M. Faqeeh2, Amal A. Kokandi3, Hisham Nassief1
1Demonstrator, Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia
2Professor, Obstetrics and Gynecology department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia
3Assistant Professor, Department of Medicine, Dermatology Unit, King Abdulaziz University Hospital, Jeddah, Saudi Arabia

Article ID: 100033Z08AA2018
doi: 10.5348/Z08-2018-33-CR-1

Corresponding Author:
Abdullah Khaled Agabawi,
Demonstrator, Obstetrics and Gynecology Department,
King Abdulaziz University Hospital,
P.O Box, 80215 Jeddah 21412,
Saudi Arabia

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How to cite this article
Agabawi AK, Faqeeh WM, Kokandi AA, Nassief H. Primary ovarian insufficiency in a xeroderma pigmentosum patient with consanguineous parents. J Case Rep Images Obstet Gynecol 2018;4:1–7.


ABSTRACT
Introduction: Xeroderma pigmentosum (XP) is an inherited condition characterized by extreme sensitivity to ultraviolet rays from sunlight. It mostly affects the eyes and areas of skin exposed to the sun with some nervous system involvement. Diagnosis is done clinically. The prevalence of that catastrophic disease has been found to be at 1:1,000,00 in the United States and Europe. On the other hand, premature ovarian insufficiency was defined as the development of hypergonadotropic hypogonadism before the age of 40 years in women who have a normal karyotype.
Case Report: A 30-year-old female who was a known case of xeroderma pigmentosum since birth. She came to the gynecology clinic complaining of oligomenorrhea for two years. Investigations were done and unfortunately this patient was discovered to have ovarian failure. There is a positive family history of consanguinity.
Conclusion: Xeroderma pigmentosum is an autosomal recessive inherited disorder. For that reason, consanguinity is a very important risk factor. There is an increased risk of skin neoplasms and other internal neoplasms such as breast and uterine cancer. Moreover, premature ovarian failure is another rare disorder that we are presenting in this case in association with XP. A study that suggested a relation between XP and ovarian failure had found that three out of twenty XP patients study was found to have POF. In such cases, hormone replacement therapy will be danger as it increases the risk of breast cancer in those patients who are already at risk of internal neoplasms.

Keywords: Premature ovarian insufficiency, Xeroderma pigmentosum


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Author Contributions
Abdullah K. Agabawi – 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
Wafa M. Faqeeh – 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
Amal A. Kokandi – 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
Hisham Nassief – 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
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
© 2018 Abdullah K. Agabawi 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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