BACKGROUND: Neonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene GLIS3. Almost 20 patients have been reported to date, with significant phenotypic variability. CASE PRESENTATION: We describe a boy with a homozygous deletion (exons 5-9) in the GLIS3 gene, who presents novel clinical aspects not reported previously. In addition to neonatal diabetes, congenital hypothyroidism and other known multi-organ manifestations such as cholestasis and renal cysts, he suffered from hyporegenerative anemia during the first four months of life and presents megalocornea in the absence of elevated intraocular pressure. Compensation of parti...
Background: Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental ...
Permanent neonatal diabetes mellitus is a rare condition mostly due to heterozygous mutations in the...
Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaem...
BACKGROUND: Neonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caus...
Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygo...
Introduction: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 ar...
This is the author accepted manuscript. The final version is available from the Endocrine Society vi...
We describe a -1-year-old boy who has persistent neonatal insulin dependent diabetes mellitus (IDDM)...
Congenital hypothyroidism (CH) is the most common neonatal metabolic disorder. Although it has been ...
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and ...
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurod...
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and ...
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six ...
Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaem...
Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth...
Background: Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental ...
Permanent neonatal diabetes mellitus is a rare condition mostly due to heterozygous mutations in the...
Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaem...
BACKGROUND: Neonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caus...
Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygo...
Introduction: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 ar...
This is the author accepted manuscript. The final version is available from the Endocrine Society vi...
We describe a -1-year-old boy who has persistent neonatal insulin dependent diabetes mellitus (IDDM)...
Congenital hypothyroidism (CH) is the most common neonatal metabolic disorder. Although it has been ...
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and ...
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurod...
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and ...
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six ...
Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaem...
Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth...
Background: Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental ...
Permanent neonatal diabetes mellitus is a rare condition mostly due to heterozygous mutations in the...
Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaem...