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Case Report
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| Coexistence of Mayer–Rokitansky–Küster–Hauser syndrome with Turner syndrome: A case report | ||||||
| Nik Rafiza Afendi1, Hoo PS2, Mas Irfan Jaya Mahamooth3, Ahmad Amir Ismail1, Rahimah Abdul Rahim1, Ahmad Akram Omar1, Adibah Ibrahim1 | ||||||
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1Senior lecturer, Obstetrics & Gynecology department, School of Medical Science, University Sains Malaysia, Kota Bharu, Kelantan, Malaysia.
2Clinical lecturer, Obstetrics & Gynecology department, School of Medical Science, University Sains Malaysia, Kota Bharu, Kelantan, Malaysia. 3Trainee lecturer, Obstetrics & Gynecology department, School of Medical Science, University Sains Malaysia, Kota Bharu, Kelantan, Malaysia. | ||||||
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| Afendi NR, Hoo PS, Mahamooth MIJ, Ismail AA, Rahim RA, Omar AA, Ibrahim A. Coexistence of Mayer-Rokitansky-Küster-Hauser syndrome with Turner syndrome: A case report. Edorium J Gynecol Obstet 2017;3:5–8. |
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Abstract
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Introduction:
Turner syndrome (gonadal dysgenesis) is an important cause of short stature and primary amenorrhea in young women. It is the most common sex chromosome abnormality in females and occurs approximately 1/2500 live births, caused by loss of part or all of an X chromosome. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome on the other hand affects 1/4500 births and rarely associated with gonadal dysgenesis.
Case Report: We report a case of a 19-year-old female presented with primary amenorrhea and short stature. On examination, patient’s height was 139 cm, and she had no pubic or axillary hair. Breast examination revealed breast buds only. She subsequently underwent MRI scan which showed absent vagina, uterus and cervix, while karyotyping was consistent with Turner syndrome. Conclusion: An association between these two conditions is very rare and appears to be coincidental, independent of chromosomal anomalies although a few theories have been suggested. Hormone substitution therapy remains the mainstay treatment. | |
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Keywords:
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, Primary amenorrhea, Turner syndrome
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Author Contributions
Nik Rafiza Afendi – Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Hoo Ps – Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Mas Irfan Jaya Mahamooth – Substantial contributions to conception and design, Analysis and interpretation of data, Drafting the article, Final approval of the version to be published Ahmad Amir Ismail – Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Rahimah Abdul Rahim – Substantial contributions to conception and design, Acquisition of data, Drafting the article, Final approval of the version to be published Ahmad Akram Omar – Substantial contributions to conception and design, Acquisition of data, Drafting the article, Final approval of the version to be published Adibah Ibrahim – Substantial contributions to conception and design, Acquisition of data, Drafting the article, Final approval of the version to be published |
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Guarantor of submission
The corresponding author is the guarantor of submission. |
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Source of support
None |
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Conflict of interest
Authors declare no conflict of interest. |
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Copyright
© 2017 Nik Rafiza Afendi 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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