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Case Report

Online Publishing Date:
27 / 08 / 2024

 


Waardenburg Syndrome Type 2: A Case Report

Isaq Ali AlMughaizel, Abdulhameed Abdulmohsen Al-Bunyan, Yassin Mahmoud Al-saleh, Eman Saleh AlMoosa, Manal Mohammed Al-shawi, Yaqoub Yousef Al Mousa, Fatimah Mouayed AlJishi.


Abstract
Background: Waardenburg Syndrome (WS) is a rare genetic disorder with distinct characteristics. Since their detection, some types of WS have been reported only once. Type 2F, the subject of this article, has only eleven reported cases worldwide.

Case presentation:
In this article, we report a 15-year-old female patient with type 2F who exhibited bilateral sensorineural hearing loss. It is the first reported case of WS type 2F with albinism since birth, type 1 diabetes mellitus (DM), absent internal female reproductive organs, and short stature.

Conclusion:
In the current case, Polyendocrinopathy, diabetes was managed with insulin, short stature with growth hormone deficiency was managed with somatropin, and she was supplemented with estrogen tab to overcome the delayed appearing of the secondary sexual characteristics.

Key words: Waardenburg Syndrome, type 2F, albinism, deafness, type 1 DM, short stature, absent female genital organs, delayed puberty, hypergonadotropic hypogonadism, KITLG gene.


 
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How to Cite this Article
Pubmed Style

AlMughaizel IA, Al-Bunyan AA, Al-saleh YM, AlMoosa ES, Al-shawi MM, Mousa YYA, AlJishi FM. Waardenburg Syndrome Type 2: A Case Report. JBCGenetics. Online First: 27 Aug, 2024. doi:10.24911/JBCGenetics.183-1710231952

Web Style

AlMughaizel IA, Al-Bunyan AA, Al-saleh YM, AlMoosa ES, Al-shawi MM, Mousa YYA, AlJishi FM. Waardenburg Syndrome Type 2: A Case Report. https://www.jbcgenetics.com/?mno=194057 [Access: August 30, 2024]. doi:10.24911/JBCGenetics.183-1710231952

AMA (American Medical Association) Style

AlMughaizel IA, Al-Bunyan AA, Al-saleh YM, AlMoosa ES, Al-shawi MM, Mousa YYA, AlJishi FM. Waardenburg Syndrome Type 2: A Case Report. JBCGenetics. Online First: 27 Aug, 2024. doi:10.24911/JBCGenetics.183-1710231952


Vancouver/ICMJE Style

AlMughaizel IA, Al-Bunyan AA, Al-saleh YM, AlMoosa ES, Al-shawi MM, Mousa YYA, AlJishi FM. Waardenburg Syndrome Type 2: A Case Report. JBCGenetics, [cited August 30, 2024]; Online First: 27 Aug, 2024. doi:10.24911/JBCGenetics.183-1710231952


Harvard Style

AlMughaizel, I. A., Al-Bunyan, . A. A., Al-saleh, . Y. M., AlMoosa, . E. S., Al-shawi, . M. M., Mousa, . Y. Y. A. & AlJishi, . F. M. (2024) Waardenburg Syndrome Type 2: A Case Report. JBCGenetics, Online First: 27 Aug, 2024. doi:10.24911/JBCGenetics.183-1710231952


Turabian Style

AlMughaizel, Isaq Ali, Abdulhameed Abdulmohsen Al-Bunyan, Yassin Mahmoud Al-saleh, Eman Saleh AlMoosa, Manal Mohammed Al-shawi, Yaqoub Yousef Al Mousa, and Fatimah Mouayed AlJishi. 2024. Waardenburg Syndrome Type 2: A Case Report. Journal of Biochemical and Clinical Genetics, Online First: 27 Aug, 2024. doi:10.24911/JBCGenetics.183-1710231952


Chicago Style

AlMughaizel, Isaq Ali, Abdulhameed Abdulmohsen Al-Bunyan, Yassin Mahmoud Al-saleh, Eman Saleh AlMoosa, Manal Mohammed Al-shawi, Yaqoub Yousef Al Mousa, and Fatimah Mouayed AlJishi. "Waardenburg Syndrome Type 2: A Case Report." Journal of Biochemical and Clinical Genetics Online First: 27 Aug, 2024. doi:10.24911/JBCGenetics.183-1710231952


MLA (The Modern Language Association) Style

AlMughaizel, Isaq Ali, Abdulhameed Abdulmohsen Al-Bunyan, Yassin Mahmoud Al-saleh, Eman Saleh AlMoosa, Manal Mohammed Al-shawi, Yaqoub Yousef Al Mousa, and Fatimah Mouayed AlJishi. "Waardenburg Syndrome Type 2: A Case Report." Journal of Biochemical and Clinical Genetics Online First: 27 Aug, 2024. Web. 30 Aug 2024 doi:10.24911/JBCGenetics.183-1710231952


APA (American Psychological Association) Style

AlMughaizel, I. A., Al-Bunyan, . A. A., Al-saleh, . Y. M., AlMoosa, . E. S., Al-shawi, . M. M., Mousa, . Y. Y. A. & AlJishi, . F. M. (2024) Waardenburg Syndrome Type 2: A Case Report. Journal of Biochemical and Clinical Genetics, Online First: 27 Aug, 2024. doi:10.24911/JBCGenetics.183-1710231952




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