Familial and sporadic hyperinsulinism: Histopathologic findings and segregation analysis support a single autosomal recessive disorder

• Published in: The Journal of pediatrics Vol. 119; no. 5; pp. 721 - 724
• Main Authors: Thornton, Paul S., Sumner, Anne E., Ruchelli, Eduardo D., Spielman, Richard S., Baker, Lester, Stanley, Charles A.
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.11.1991; Elsevier
• Subjects: Biological and medical sciences; Endocrinopathies; Family Characteristics; Female; Genes, Recessive; Genotype; Humans; Hyperinsulinism - genetics; Hyperinsulinism - pathology; Hyperinsulinism - surgery; Infant; Infant, Newborn; Male; Medical sciences; Pancreas - pathology; Pancreatectomy; Endocrinopathy; Human; Pathology; Hyperinsulinemia; Inheritance; Metabolic diseases; Statistical study; Insulin

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, clinic...