期刊
ERCIYES MEDICAL JOURNAL
卷 43, 期 5, 页码 502-504出版社
ERCIYES UNIV SCH MEDICINE
DOI: 10.14744/etd.2020.43799
关键词
Transient neonatal diabetes; 6q24; sulfonylurea treatment; duplication
Neonatal diabetes mellitus is a rare form of diabetes caused by various genetic abnormalities, with oral sulfonylurea being a useful treatment option. This report discusses a rare chromosomal defect not previously documented in the literature, highlighting the importance of early genetic evaluation.
Background: Neonatal diabetes mellitus (NDM) is a rare form of diabetes. It occurs due to several different genetic abnormalities, and two main groups have been recognized, transient and permanent. Although insulin is often used as a first-line treatment for transient types, this mode of therapy is not helpful in some cases. Case Report: We present a newborn case treated with oral sulfonylurea diagnosed as transient type NDM in the first days of life. The chromosomal microarray analysis detected a rare de novo duplication of 3383 kb in the 6q24.1q24.2 region. Conclusion: An oral sulfonylurea treatment is a useful treatment option in the management of neonatal diabetes cases. This report describes a rare deletion that has not been described in the literature to date. Advanced genetic evaluation is vital for early diagnosis and intervention in patients with chromosome 6q duplication.
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