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Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report
The overexpression of imprinted genes on chromosome 6q24 causes 6q24-related transient neonatal diabetes mellitus (6q24-TNDM). Most cases of 6q24-TNDM show transient diabetes mellitus (DM) during the neonatal period, followed by relapse after puberty. These two courses of DM are both characterized b...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534527/ https://www.ncbi.nlm.nih.gov/pubmed/33088017 http://dx.doi.org/10.1297/cpe.29.179 |
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author | Uchida, Noboru Ohnishi, Takuma Kojima, Takuro Takahashi, Tsutomu Makita, Yoshio Fukami, Maki Shibata, Hironori Hasegawa, Tomonobu Ishii, Tomohiro |
author_facet | Uchida, Noboru Ohnishi, Takuma Kojima, Takuro Takahashi, Tsutomu Makita, Yoshio Fukami, Maki Shibata, Hironori Hasegawa, Tomonobu Ishii, Tomohiro |
author_sort | Uchida, Noboru |
collection | PubMed |
description | The overexpression of imprinted genes on chromosome 6q24 causes 6q24-related transient neonatal diabetes mellitus (6q24-TNDM). Most cases of 6q24-TNDM show transient diabetes mellitus (DM) during the neonatal period, followed by relapse after puberty. These two courses of DM are both characterized by insulin insufficiency. However, there has been no previously reported case of 6q24-TNDM with insulin resistance at relapse. We report the case of a 10-yr-old Japanese girl with relapsing 6q24-TNDM. In the neonatal period, she had hyperglycemia and was treated with insulin injection until 2 mo of age. After several years of remission of DM, her HbA1c level increased to 7.4% at 10 yr of age. Homeostasis model assessment of insulin resistance (HOMA-IR) score was high at 6.2. After starting metformin therapy, her glycemic control improved along with normalization of HOMA-IR score. Using microsatellite marker analysis on the 6q24 region and array comparative genome hybridization, we diagnosed her with 6q24-TNDM due to paternally inherited duplication of 6q24. These data indicate that patients with 6q24-TNDM can develop relapsing DM with insulin resistance. |
format | Online Article Text |
id | pubmed-7534527 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The Japanese Society for Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-75345272020-10-20 Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report Uchida, Noboru Ohnishi, Takuma Kojima, Takuro Takahashi, Tsutomu Makita, Yoshio Fukami, Maki Shibata, Hironori Hasegawa, Tomonobu Ishii, Tomohiro Clin Pediatr Endocrinol Case Report The overexpression of imprinted genes on chromosome 6q24 causes 6q24-related transient neonatal diabetes mellitus (6q24-TNDM). Most cases of 6q24-TNDM show transient diabetes mellitus (DM) during the neonatal period, followed by relapse after puberty. These two courses of DM are both characterized by insulin insufficiency. However, there has been no previously reported case of 6q24-TNDM with insulin resistance at relapse. We report the case of a 10-yr-old Japanese girl with relapsing 6q24-TNDM. In the neonatal period, she had hyperglycemia and was treated with insulin injection until 2 mo of age. After several years of remission of DM, her HbA1c level increased to 7.4% at 10 yr of age. Homeostasis model assessment of insulin resistance (HOMA-IR) score was high at 6.2. After starting metformin therapy, her glycemic control improved along with normalization of HOMA-IR score. Using microsatellite marker analysis on the 6q24 region and array comparative genome hybridization, we diagnosed her with 6q24-TNDM due to paternally inherited duplication of 6q24. These data indicate that patients with 6q24-TNDM can develop relapsing DM with insulin resistance. The Japanese Society for Pediatric Endocrinology 2020-10-03 2020 /pmc/articles/PMC7534527/ /pubmed/33088017 http://dx.doi.org/10.1297/cpe.29.179 Text en 2020©The Japanese Society for Pediatric Endocrinology This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Uchida, Noboru Ohnishi, Takuma Kojima, Takuro Takahashi, Tsutomu Makita, Yoshio Fukami, Maki Shibata, Hironori Hasegawa, Tomonobu Ishii, Tomohiro Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report |
title | Relapsing 6q24-related transient neonatal diabetes mellitus with insulin
resistance: A case report |
title_full | Relapsing 6q24-related transient neonatal diabetes mellitus with insulin
resistance: A case report |
title_fullStr | Relapsing 6q24-related transient neonatal diabetes mellitus with insulin
resistance: A case report |
title_full_unstemmed | Relapsing 6q24-related transient neonatal diabetes mellitus with insulin
resistance: A case report |
title_short | Relapsing 6q24-related transient neonatal diabetes mellitus with insulin
resistance: A case report |
title_sort | relapsing 6q24-related transient neonatal diabetes mellitus with insulin
resistance: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534527/ https://www.ncbi.nlm.nih.gov/pubmed/33088017 http://dx.doi.org/10.1297/cpe.29.179 |
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