Neonatal diabetes mellitus with congenital hypothyroidism
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
- already in uteri a growth retardation can be observed
- renal involvement includes parenchymal damage and cysts
- liver disease manifest as hepatitis, fibrosis, and zirrhosis
- facial dysmorphisms involve low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip.[Error: Macro 'ref' doesn't exist]
Cysts are the typical renal manifestation of NDH syndrome.
Taha D et. al. (2003) Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?[^]
Senée V et. al. (2006) Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.[^]
Dimitri P et. al. (2011) Novel GLIS3 mutations demonstrate an extended multisystem phenotype.[^]
Dimitri P et. al. (2015) Expanding the Clinical Spectrum Associated With GLIS3 Mutations.[^]