Presentation
Affected infants present with low birth weight and hyperglycemia. [ncbi.nlm.nih.gov]
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet. 2006 Sep;120(2):262-9. Epub 2006 Jul 1. [medlineplus.gov]
Entire Body System
- Developmental Delay
Affected sibs, of whom one was severely developmentally delayed and the other only mildly delayed, have been reported [Boonen et al 2008]. [ncbi.nlm.nih.gov]
Gastrointestinal
- Diarrhea
[…] dysregulation, polyendocrinopathy, enteropathy, X-linked) can be caused by pathogenic variants in FOXP3 and is characterized by the development of overwhelming systemic autoimmunity in the first year of life resulting in the commonly observed triad of watery diarrhea [ncbi.nlm.nih.gov]
Cardiovascular
- Heart Disease
Neonatal diabetes mellitus and congenital heart disease caused by pathogenic variants in GATA6 (OMIM 600001). [ncbi.nlm.nih.gov]
Skin
- Dermatitis
[…] polyendocrinopathy, enteropathy, X-linked) can be caused by pathogenic variants in FOXP3 and is characterized by the development of overwhelming systemic autoimmunity in the first year of life resulting in the commonly observed triad of watery diarrhea, eczematous dermatitis [ncbi.nlm.nih.gov]
Treatment
Successful treatment with subcutaneous insulin glargine has also been reported [Barone et al 2011]. Blood glucose concentration should be monitored and insulin doses changed accordingly as in the standard treatment for diabetes mellitus. [ncbi.nlm.nih.gov]
Insulin in the required treatment. [pesquisa.bvsalud.org]
Etiology
No difference in the severity, duration, or relapse rate of diabetes has been detected between the 6q24-TNDM etiologic subgroups [Temple et al 2000]. Non-diabetes manifestations vary by causative genetic mechanism. [ncbi.nlm.nih.gov]
Prevention
Some people with this disorder have a genetic change in the maternal copy of the 6q24 region that prevents genes in that region from being silenced. [medlineplus.gov]
Prevention of secondary complications: Prompt treatment of dehydration to avoid sequelae. Surveillance: Periodic glucose tolerance tests (abnormalities suggest future recurrence); monitoring of growth and development. [ncbi.nlm.nih.gov]