Endocrine Abstracts

Background and aims: MEHMO is an X-linked syndrome comprising Mental retardation, Epilepsy, Hypogenitalism, Microcephaly and Obesity. It is caused by a damaging p.Ile465Serfs frameshift mutation in EIF2S3 that encodes the □ subunit of eukaryotic translation initiation factor 2 (eIF2), essential for protein synthesis and regulation of the integrated stress response. Patients with this EIF2S3 mutation also have neonatal hypoglycemia, early onset insulin-...