Atypical diabetes arising from SHORT syndrome: a case report
Short stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. W...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-12-01
|
| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2024.1467364/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850060601962790912 |
|---|---|
| author | Aili Wang Aili Wang Miao Xu Li Li Jialin Li |
| author_facet | Aili Wang Aili Wang Miao Xu Li Li Jialin Li |
| author_sort | Aili Wang |
| collection | DOAJ |
| description | Short stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. We report the case of a Chinese adult female patient with SHORT syndrome, carrying a PIK3R1 gene variant (c.1945C > T), who developed abnormal glucose metabolism and severe postprandial insulin resistance over 9 years. Although there are currently no established treatment guidelines for insulin resistance in patients with SHORT syndrome, we implemented a comprehensive treatment plan, including lifestyle interventions, metformin, and voglibose for glucose control. After 6 months of continuous observation, the patient’s blood glucose levels and insulin resistance improved significantly. This case study provides useful insights for future treatment strategies. |
| format | Article |
| id | doaj-art-1f92b8313fcb4dba94bef1fc6573f0c3 |
| institution | DOAJ |
| issn | 1664-2392 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-1f92b8313fcb4dba94bef1fc6573f0c32025-08-20T02:50:30ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922024-12-011510.3389/fendo.2024.14673641467364Atypical diabetes arising from SHORT syndrome: a case reportAili Wang0Aili Wang1Miao Xu2Li Li3Jialin Li4Department of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, ChinaHealth Science Center, Ningbo University, Ningbo, Zhejiang, ChinaDepartment of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, ChinaDepartment of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, ChinaDepartment of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, ChinaShort stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. We report the case of a Chinese adult female patient with SHORT syndrome, carrying a PIK3R1 gene variant (c.1945C > T), who developed abnormal glucose metabolism and severe postprandial insulin resistance over 9 years. Although there are currently no established treatment guidelines for insulin resistance in patients with SHORT syndrome, we implemented a comprehensive treatment plan, including lifestyle interventions, metformin, and voglibose for glucose control. After 6 months of continuous observation, the patient’s blood glucose levels and insulin resistance improved significantly. This case study provides useful insights for future treatment strategies.https://www.frontiersin.org/articles/10.3389/fendo.2024.1467364/fullSHORT syndromePIK3R1whole-exome sequencinginsulin resistancetherapy |
| spellingShingle | Aili Wang Aili Wang Miao Xu Li Li Jialin Li Atypical diabetes arising from SHORT syndrome: a case report Frontiers in Endocrinology SHORT syndrome PIK3R1 whole-exome sequencing insulin resistance therapy |
| title | Atypical diabetes arising from SHORT syndrome: a case report |
| title_full | Atypical diabetes arising from SHORT syndrome: a case report |
| title_fullStr | Atypical diabetes arising from SHORT syndrome: a case report |
| title_full_unstemmed | Atypical diabetes arising from SHORT syndrome: a case report |
| title_short | Atypical diabetes arising from SHORT syndrome: a case report |
| title_sort | atypical diabetes arising from short syndrome a case report |
| topic | SHORT syndrome PIK3R1 whole-exome sequencing insulin resistance therapy |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2024.1467364/full |
| work_keys_str_mv | AT ailiwang atypicaldiabetesarisingfromshortsyndromeacasereport AT ailiwang atypicaldiabetesarisingfromshortsyndromeacasereport AT miaoxu atypicaldiabetesarisingfromshortsyndromeacasereport AT lili atypicaldiabetesarisingfromshortsyndromeacasereport AT jialinli atypicaldiabetesarisingfromshortsyndromeacasereport |