Neonatal diabetes mellitus with congenital hypothyroidism is an autosomal recessive disorder caused by mutations of the transcription factor GLIS3. In addition to congenital hypothyroidism and a diabetes mellitus that develops within the first few month, various dysmorphic features are present.
The clinical picture includes functional and morphological features
Renal cysts | |
Cysts are the typical renal manifestation of NDH syndrome. |
1. |
Taha D et al. (2003) Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? |
2. |
Senée V et al. (2006) Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. |
3. |
Dimitri P et al. (2011) Novel GLIS3 mutations demonstrate an extended multisystem phenotype. |
4. |
Dimitri P et al. (2015) Expanding the Clinical Spectrum Associated With GLIS3 Mutations. |
5. |
Orphanet article Orphanet ID 168569 |
6. |
OMIM.ORG article Omim 610199 |