ESPE Abstracts

Background: Infants with severe insulin resistance syndrome show failure to thrive.

Objective and hypotheses: Effect of rhIGF1 treatment on growth in a patient with severe insulin resistance syndrome.

Method: Case report.

Results: The patient is a 4-years-old Caucasian girl of unrelated healthy parents. She was born after a 40 weeks gestation as a small for gestational age infant with a birth weight of 1970 g. After birth she developed high blood glucose levels of >400 mg/dl with high levels of insulin (>2000 mU/ml) and c-peptide (>60 ng/ml), fasting hypoglycaemias and high blood pressure. The molecular analysis revealed two mutations in the insulin receptor gene. At the age of 35 month she was admitted to our hospital. She had decreased subcutaneous fat, hirsutism and acanthosis nigricans. Her body length and weight were 80.4 cm (−3.7 SDS) and 8.8 kg respectively. Levels of IGF1 and IGFBP-3 were extremely low (1 μg/l (−8.0 SDS) and 0.18 mg/l (−9.4 SDS) respectively). We started treatment with rhIGF1 (Increlex^©, Ipsen, Ettlingen, Germany) with a dose of twice a day 0.6 mg/s.c. After 1 year at the age of 48 month, her length was 89.6 cm (−3.0 SDS), leading to an increase in length of +0.7 SDS during the 1^st year. Levels of IGF1 were 91 μg/l (−0.08 SDS) bevor and 274 μg/l (+2.2 SDS) 2 h after s.c. injection. Levels of IGFBP3 remained low (0.94 mg/l (−3.6 SDS) and 0.82 mg/l (−4.28 SDS) respectively). Treatment was well tolerated, blood glucose levels remained stable and haemoglobin A_1c level was within the normal range (5.7%).

Conclusion: This leprechaun patient has an IGF1 deficient state and rhIGF1 treatment induced catch-up growth.