A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes
ABSTRACT A 33‐year‐old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia. He also exhibited characteristic facies, including a triangular face with a small chin, deeply set eyes, and low‐set ears. He was born with intrauterine growth r...
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| Format: | Article |
| Language: | English |
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Wiley
2025-08-01
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| Series: | Journal of Diabetes Investigation |
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| Online Access: | https://doi.org/10.1111/jdi.70088 |
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| author | Kumiko Tajima Yushi Hirota Tomofumi Takayoshi Wataru Ogawa |
| author_facet | Kumiko Tajima Yushi Hirota Tomofumi Takayoshi Wataru Ogawa |
| author_sort | Kumiko Tajima |
| collection | DOAJ |
| description | ABSTRACT A 33‐year‐old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia. He also exhibited characteristic facies, including a triangular face with a small chin, deeply set eyes, and low‐set ears. He was born with intrauterine growth restriction and developed diabetes during adolescence, requiring high‐dose insulin therapy. For 19 years, an accurate diagnosis was not made. We performed direct sequencing of the insulin receptor gene and exons 11–16 of the PIK3R1 gene, identifying a c.1957A>T mutation (p.Lys653*) in the PIK3R1 gene, which confirmed a diagnosis of SHORT syndrome. Suspecting SHORT syndrome in individuals who exhibit some of its typical symptoms may facilitate an accurate diagnosis and enable effective management of this condition. |
| format | Article |
| id | doaj-art-4f57d03e1fd440c9a6f3e65840fc009c |
| institution | DOAJ |
| issn | 2040-1116 2040-1124 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Diabetes Investigation |
| spelling | doaj-art-4f57d03e1fd440c9a6f3e65840fc009c2025-08-20T03:16:22ZengWileyJournal of Diabetes Investigation2040-11162040-11242025-08-011681561156510.1111/jdi.70088A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetesKumiko Tajima0Yushi Hirota1Tomofumi Takayoshi2Wataru Ogawa3Department of Internal Medicine Japan Community Health Care Organization Gunma Central Hospital Maebashi JapanDivision of Diabetes and Endocrinology, Department of Internal Medicine Kobe University Graduate School of Medicine Kobe JapanDivision of Diabetes and Endocrinology, Department of Internal Medicine Kobe University Graduate School of Medicine Kobe JapanDivision of Diabetes and Endocrinology, Department of Internal Medicine Kobe University Graduate School of Medicine Kobe JapanABSTRACT A 33‐year‐old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia. He also exhibited characteristic facies, including a triangular face with a small chin, deeply set eyes, and low‐set ears. He was born with intrauterine growth restriction and developed diabetes during adolescence, requiring high‐dose insulin therapy. For 19 years, an accurate diagnosis was not made. We performed direct sequencing of the insulin receptor gene and exons 11–16 of the PIK3R1 gene, identifying a c.1957A>T mutation (p.Lys653*) in the PIK3R1 gene, which confirmed a diagnosis of SHORT syndrome. Suspecting SHORT syndrome in individuals who exhibit some of its typical symptoms may facilitate an accurate diagnosis and enable effective management of this condition.https://doi.org/10.1111/jdi.70088AdolescentInsulin resistanceIntrauterine growth restriction |
| spellingShingle | Kumiko Tajima Yushi Hirota Tomofumi Takayoshi Wataru Ogawa A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes Journal of Diabetes Investigation Adolescent Insulin resistance Intrauterine growth restriction |
| title | A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes |
| title_full | A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes |
| title_fullStr | A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes |
| title_full_unstemmed | A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes |
| title_short | A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes |
| title_sort | case of short syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes |
| topic | Adolescent Insulin resistance Intrauterine growth restriction |
| url | https://doi.org/10.1111/jdi.70088 |
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