A Triplication of 6q24 and Meconium Pseudocyst: A Case Report

2019 ◽  
Vol 38 (6) ◽  
pp. 329-335
Author(s):  
Meagan Mooney ◽  
Cheryl A. Carlson ◽  
Cheryl Riley
Keyword(s):  
Phenotypic Expression ◽  
Neonatal Diabetes ◽  
Multiple Congenital Anomalies ◽  
Transient Neonatal Diabetes Mellitus ◽  
Genetic Significance ◽  
Unknown Significance ◽  
Chromosome 6Q24 ◽  
Transient Neonatal Diabetes ◽  
Meconium Pseudocyst

With the rise in genetic screening both pre- and postnatally, new variances in genes are being recognized. Some are of unknown significance, while other known genetic expressions have obvious phenotypical expressions. Transient neonatal diabetes mellitus is a result of the duplication of chromosome 6q24, but little is known about the phenotypic expression of a triplication of chromosome 6q24. This case study presents an infant with a postnatally diagnosed triplication of chromosome 6q24, meconium pseudocyst, and multiple congenital anomalies with unknown genetic significance.

scholarly journals Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Anna Delamerced ◽  
Lauren J. Massingham ◽  
Jose Bernardo Quintos
Keyword(s):  
Diabetes Mellitus ◽  
Cell Function ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
First Year ◽  
Dental Disease ◽  
Transient Neonatal Diabetes Mellitus ◽  
Chromosome 6Q24 ◽  
Β Cell Function ◽  
Transient Neonatal Diabetes

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that presents in infancy and is characterized by intrauterine growth restriction and hyperglycemia without ketones on urinalysis. Patients are treated with insulin until remission, usually within the first year. Relapse to a permanent state may occur later in life, with a mean age of 14 years. The most common cause of TNDM is a chromosome 6q24 mutation that affects pancreatic β-cell function. Reports of relapse have been limited. We describe a case of an adolescent female with TNDM due to 6q24 hypomethylation who relapsed at 15 years of age with severe dental disease as the presenting sign.

An oral sulfonylurea in the treatment of transient neonatal diabetes mellitus

2009 ◽  
Vol 31 (4) ◽  
pp. 816-820 ◽  
Author(s):  
Lindsey A. Loomba-Albrecht ◽  
Nicole S. Glaser ◽  
Dennis M. Styne ◽  
Andrew A. Bremer
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes

Differences between Transient Neonatal Diabetes Mellitus Subtypes can Guide Diagnosis and Therapy

2021 ◽  
Author(s):  
Riccardo Bonfanti ◽  
Dario Iafusco ◽  
Ivana Rabbone ◽  
Giacomo Diedenhofen ◽  
Carla Bizzarri ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Clinical Features ◽  
Umbilical Hernia ◽  
Neonatal Diabetes ◽  
Pharmacological Therapy ◽  
Neonatal Diabetes Mellitus ◽  
Data Set ◽  
Transient Neonatal Diabetes Mellitus ◽  
Remission Of Diabetes ◽  
Transient Neonatal Diabetes

Objective: Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design: Retrospective analysis of the Italian data set of patients with TNDM. Methods: Clinical features and treatment of 22 KATP/ TNDM patients and 12 6q24/TNDM patients were compared. Results: Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; -2.27 SD) than those with KATP mutations (4.0 weeks; -1.04 SD) (p=0.009 and p=0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 vs 12 weeks) (p=0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions: If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.

scholarly journals Duplication 6q24: More Than Just Diabetes

2020 ◽  
Vol 4 (5) ◽  
Author(s):  
Rachel H Gore ◽  
Maria Eleni Nikita ◽  
Paula G Newton ◽  
Rebecca G Carter ◽  
Jeanine Reyes-Bautista ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Uniparental Disomy ◽  
Clinical Importance ◽  
Neonatal Diabetes ◽  
Increased Risk ◽  
Chromosome 6Q24 ◽  
History Of ◽  
Transient Neonatal Diabetes ◽  
Neonatal Hyperglycemia ◽  
Methylation Patterns

Abstract Chromosome 6q24-related transient neonatal diabetes mellitus is characterized by intrauterine growth restriction and low birth weight, with neonatal hyperglycemia resolving by 18 months and an increased risk for type 2 diabetes in adulthood. Molecularly, it is caused by overexpression of the 6q24 imprinted chromosomal region due to a duplication, uniparental disomy, or abnormal methylation. Conventional testing for this condition analyzes methylation patterns at the 6q24 locus but does not evaluate for the presence of other surrounding chromosomal abnormalities. We report a female with a history of neonatal hyperglycemia due to a paternally inherited duplication at chromosomal location 6q24. She subsequently presented to the pediatric genetics clinic at 15 months of age with developmental delay and abnormal balance. Microarray analysis identified a larger 14 Mb chromosomal duplication from 6q24 to 6q25.2, consistent with a diagnosis of duplication 6q syndrome. This case highlights the clinical importance of pursuing further genetic evaluation in patients diagnosed with chromosome 6q24-related neonatal hyperglycemia via targeted methylation-specific multiplex ligation-dependent probe amplification analysis identifying a duplication in this region. Early identification and intervention can improve developmental outcomes for patients with larger chromosome 6q duplications.

Transient Neonatal Diabetes Mellitus

2003 ◽  
Vol 17 (2) ◽  
pp. 73-74
Author(s):  
MJ Reddy ◽  
RH Udani ◽  
SM Aber ◽  
V Shingde
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes
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