HNF1a and 4a HI Research

Learn more about the contributions of CHOP endocrinologists to the understanding of HNF1a and 4a hyperinsulinism.


Congenital hyperinsulinism due to mutations in HNF1A. Yau D, Colclough K, Natarajan A, Parikh R, Canham N, Didi M, Senniappan S, Banerjee I. Eur J Med Genet. 2020;63(6):103928.

Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother. Vlachopapadopoulou EA, Dikaiakou E, Fotiadou A, Sifianou P, Tatsi EB, Sertedaki A, Kanaka-Gantenbein C, Michalacos S. J Pediatr Endocrinol Metab. 2020;34(4):527-530.


Tung JY, Boodhansingh K, Stanley CA, De León DD. Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations. Pediatric Diabetes, 19(5): 910-916, August 2018. doi: 10.1111/pedi.12655. PMID: 29493090


Stanescu DE, Hughes N, Kaplan B, Stanley CA, De Leon DD. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. Journal of Clinical Endocrinology & Metabolism. 97(10):E2026-30, 2012 Oct.


Marquard J, Palladino AA, Stanley CA, Mayatepek E, Meissner T. Rare forms of congenital hyperinsulinism. [Review] Seminars in Pediatric Surgery. 20(1):38-44, 2011 Feb.


Stay in Touch

Subscribe to HI Hope, our e-newsletter for families.

mother holding son

Your Child's HI Appointment

Your first visit will be either an outpatient or inpatient visit, depending on your child’s needs.