Living with Neonatal diabetes mellitus with congenital hypothyroidism
A rare genetic condition with diabetes and an underactive thyroid from birth, and sometimes eye, liver, and kidney problems.
Understanding Neonatal diabetes mellitus with congenital hypothyroidism
Babies have permanent diabetes from the newborn period and an underactive thyroid from birth. Other features can include glaucoma from birth, liver disease, kidney cysts, trouble with pancreas digestive function, hearing loss, developmental delay, and mild facial differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Diabetes starting in the newborn period
- Underactive thyroid from birth
- Slow growth before birth
- High eye pressure (glaucoma)
- Liver scarring (hepatic fibrosis)
- Kidney cysts
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in GLIS3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the GLIS3 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ndh syndrome; neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neonatal diabetes mellitus with congenital hypothyroidism.
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