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Conclusions Among medically resistant cases, 17/26 patients (65,4%) had KATP genes mutations, of which 9 were paternally inherited and represent focal HI, what was confirmed histologically and 8 had diffuse disease (4 heterozygous denovo mutations and 4 homozygous and compound heterozygous mutations); 1 patient (3,8%) had severe GCK mutation; 8/26 patients had wild type genes. Among medically responsive cases, 11/64 patients (17 %) had mutations in KATP genes, interestingly 2 of them (both with heterozygous intronic mutations) spontaneously resolved during 6 months after diagnosis; 2/64 (3,1%) – in GCK, 3/64 (4,6%) – in GLUD1 and 1/64 (1,5%) – in HADH gene.

54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Barcelona, Spain, October 1-3, 2015: Abstracts