Polyendocrinopathy, deafness and albinism, a new combination syndrome
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...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2024-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | https://www.jbcgenetics.com/?mno=194057 |
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| author | Isaq A. AlMughaizel Abdulhameed A. Al-Bunyan Yassin M. Al-saleh Eman S. AlMoosa Manal M. Al-Shawi Yaqoub Y. AlMousa Fatimah M. AlJishi |
| author_facet | Isaq A. AlMughaizel Abdulhameed A. Al-Bunyan Yassin M. Al-saleh Eman S. AlMoosa Manal M. Al-Shawi Yaqoub Y. AlMousa Fatimah M. AlJishi |
| author_sort | Isaq A. AlMughaizel |
| collection | DOAJ |
| description | 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. [JBCGenetics 2024; 7(1.000): 040-049] |
| format | Article |
| id | doaj-art-a1b5bbb7e6374b5f8541a5e9a6f9a167 |
| institution | Kabale University |
| issn | 1658-807X 1658-8088 |
| language | English |
| publishDate | 2024-02-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj-art-a1b5bbb7e6374b5f8541a5e9a6f9a1672025-08-20T03:42:18ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X1658-80882024-02-017104004910.24911/JBCGenetics.183-1710231952194057Polyendocrinopathy, deafness and albinism, a new combination syndromeIsaq A. AlMughaizel0Abdulhameed A. Al-Bunyan1Yassin M. Al-saleh2Eman S. AlMoosa3Manal M. Al-Shawi4Yaqoub Y. AlMousa5Fatimah M. AlJishi6Pediatric Endocrinology Department, Maternity and Children Hospital AlAhsa, AlAhsa, Saudi Arabia Pediatric Endocrinology Department, Maternity and Children Hospital AlAhsa, AlAhsa, Saudi Arabia Pediatric Endocrinology Department, Maternity and Children Hospital AlAhsa, AlAhsa, Saudi Arabia Pediatric Endocrinology Department, Maternity and Children Hospital AlAhsa, AlAhsa, Saudi Arabia Pediatric Endocrinology Department, Maternity and Children Hospital AlAhsa, AlAhsa, Saudi Arabia Research and Studies Department in AlOmran General Hospital, AlAhsa, Saudi Arabia Pediatric Endocrine Fellow, King Fahad Hospital of the University, Khobar, Saudi Arabia.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. [JBCGenetics 2024; 7(1.000): 040-049]https://www.jbcgenetics.com/?mno=194057waardenburg syndrometype 2falbinismdeafnesstype 1 dmshort statureabsent female genital organshypergonadotropic hypogonadismkitlg gene |
| spellingShingle | Isaq A. AlMughaizel Abdulhameed A. Al-Bunyan Yassin M. Al-saleh Eman S. AlMoosa Manal M. Al-Shawi Yaqoub Y. AlMousa Fatimah M. AlJishi Polyendocrinopathy, deafness and albinism, a new combination syndrome Journal of Biochemical and Clinical Genetics waardenburg syndrome type 2f albinism deafness type 1 dm short stature absent female genital organs hypergonadotropic hypogonadism kitlg gene |
| title | Polyendocrinopathy, deafness and albinism, a new combination syndrome |
| title_full | Polyendocrinopathy, deafness and albinism, a new combination syndrome |
| title_fullStr | Polyendocrinopathy, deafness and albinism, a new combination syndrome |
| title_full_unstemmed | Polyendocrinopathy, deafness and albinism, a new combination syndrome |
| title_short | Polyendocrinopathy, deafness and albinism, a new combination syndrome |
| title_sort | polyendocrinopathy deafness and albinism a new combination syndrome |
| topic | waardenburg syndrome type 2f albinism deafness type 1 dm short stature absent female genital organs hypergonadotropic hypogonadism kitlg gene |
| url | https://www.jbcgenetics.com/?mno=194057 |
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