Article
Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder.
The Journal of pediatrics - 1 Nov 1991
Thornton P S, Sumner A E, Ruchelli E D, Spielman R S, Baker L, Stanley C A
Abstract excerpt
We evaluated the possible genetic contribution to hyperinsulinism in a series of patients seen during the past 15 years. Of 26 families, 5 (19%) had more than one child affected (multiplex family). There were no apparent differences between patients in the 5 multiplex and 21 simplex families, clinically, biochemically, or on histologic examination of the pancreatic specimens. The families studied had a total of...
Topics
- Family Characteristics
- Female
- Genes, Recessive
- Genotype
- Humans
- Hyperinsulinism
- Infant
- Infant, Newborn
- Male
- Pancreas
- Pancreatectomy