Polyendocrinopathy, deafness and albinism, a new combination syndrome

Isaq A. AlMughaizel; Abdulhameed A. Al-Bunyan; Yassin M. Al-saleh; Eman S. AlMoosa; Manal M. Al-Shawi; Yaqoub Y. AlMousa; Fatimah M. AlJishi

doi:10.24911/JBCGenetics.183-1710231952

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Case Report
Online Published: 27 Aug 2024

JBCGenetics. 2024; 7(1): 038-047

doi: 10.24911/JBCGenetics.183-1710231952

Polyendocrinopathy, deafness and albinism, a new combination syndrome

Isaq A. AlMughaizel, Abdulhameed A. Al-Bunyan, Yassin M. Al-saleh, Eman S. AlMoosa, Manal M. Al-Shawi, Yaqoub Y. AlMousa, Fatimah M. AlJishi.

Abstract
Background: Waardenburg syndrome is a rare genetic disorder with distinct characteristics. Since their discovery, 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, it might be classified as a new type of WS with this distinguished and unique presentation. Consanguineous marriages might reveal hidden diseased genes. This condition requires a multidisciplinary team management.

Key words: Waardenburg syndrome, type 2F, albinism, deafness, type 1 DM, short stature, absent female genital organs, 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, AlMousa YY, AlJishi FM. Polyendocrinopathy, deafness and albinism, a new combination syndrome. JBCGenetics. 2024; 7(1): 038-047. doi:10.24911/JBCGenetics.183-1710231952

Web Style

AlMughaizel IA, Al-Bunyan AA, Al-saleh YM, AlMoosa ES, Al-Shawi MM, AlMousa YY, AlJishi FM. Polyendocrinopathy, deafness and albinism, a new combination syndrome. https://www.jbcgenetics.com/?mno=194057 [Access: November 14, 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, AlMousa YY, AlJishi FM. Polyendocrinopathy, deafness and albinism, a new combination syndrome. JBCGenetics. 2024; 7(1): 038-047. doi:10.24911/JBCGenetics.183-1710231952

Vancouver/ICMJE Style

AlMughaizel IA, Al-Bunyan AA, Al-saleh YM, AlMoosa ES, Al-Shawi MM, AlMousa YY, AlJishi FM. Polyendocrinopathy, deafness and albinism, a new combination syndrome. JBCGenetics. (2024), [cited November 14, 2024]; 7(1): 038-047. 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., AlMousa, . Y. Y. & AlJishi, . F. M. (2024) Polyendocrinopathy, deafness and albinism, a new combination syndrome. JBCGenetics, 7 (1), 038-047. doi:10.24911/JBCGenetics.183-1710231952

Turabian Style

AlMughaizel, Isaq A., Abdulhameed A. Al-Bunyan, Yassin M. Al-saleh, Eman S. AlMoosa, Manal M. Al-Shawi, Yaqoub Y. AlMousa, and Fatimah M. AlJishi. 2024. Polyendocrinopathy, deafness and albinism, a new combination syndrome. Journal of Biochemical and Clinical Genetics, 7 (1), 038-047. doi:10.24911/JBCGenetics.183-1710231952

Chicago Style

AlMughaizel, Isaq A., Abdulhameed A. Al-Bunyan, Yassin M. Al-saleh, Eman S. AlMoosa, Manal M. Al-Shawi, Yaqoub Y. AlMousa, and Fatimah M. AlJishi. "Polyendocrinopathy, deafness and albinism, a new combination syndrome." Journal of Biochemical and Clinical Genetics 7 (2024), 038-047. doi:10.24911/JBCGenetics.183-1710231952

MLA (The Modern Language Association) Style

AlMughaizel, Isaq A., Abdulhameed A. Al-Bunyan, Yassin M. Al-saleh, Eman S. AlMoosa, Manal M. Al-Shawi, Yaqoub Y. AlMousa, and Fatimah M. AlJishi. "Polyendocrinopathy, deafness and albinism, a new combination syndrome." Journal of Biochemical and Clinical Genetics 7.1 (2024), 038-047. Print. 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., AlMousa, . Y. Y. & AlJishi, . F. M. (2024) Polyendocrinopathy, deafness and albinism, a new combination syndrome. Journal of Biochemical and Clinical Genetics, 7 (1), 038-047. doi:10.24911/JBCGenetics.183-1710231952

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