Abstract
Donohue syndrome (DS) is a severe form of congenital insulin resistance due to mutation(s) in the insulin receptor (INSR) gene. Given the similarities between insulin and insulin-like growth factor 1 (IGF-1) receptors, recombinant human IGF-1 (rhIGF-1) has been used to treat severe insulin resistance due to INSR mutation(s). Traditional subcutaneous therapy may be limited by the shortened IGF-1 half-life in these patients. We report the case of a female with molecularly confirmed DS treated with continuous rhIGF-1 therapy via an insulin pump. With treatment, the patient's hemoglobin A1c decreased from 9.8% to 8.8%, and her weight increased by 0.8 kg. Development of an ovarian tumor complicated her course, but it was unclear whether this was related to rhIGF-1 therapy. Limited treatment options exist for patients with DS. The use of continuous rhIGF-1 via an insulin pump may be a viable option, although further experience is needed to establish safety and efficacy.
Original language | English (US) |
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Pages (from-to) | 1237-1241 |
Number of pages | 5 |
Journal | Journal of Pediatric Endocrinology and Metabolism |
Volume | 27 |
Issue number | 11-12 |
DOIs | |
State | Published - Nov 1 2014 |
Externally published | Yes |
Keywords
- Donohue syndrome
- insulin infusion systems
- insulin resistance
- insulin-like growth factor
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism
- Endocrinology