Recently, the genetic cause of several syndromic forms of glycemia dysregulation has been described. One of them, MEHMO syndrome, is a rare X-linked syndrome recently linked to the EIF2S3 gene mutations. MEHMO is characterized by Mental retardation, Epilepsy, Hypogonadism/hypogenitalism, Microcephaly, and Obesity. Moreover, patients with MEHMO had also diabetes and endocrine phenotype, but detailed information is missing. We aimed to provide more details on the endocrine phenotype in two previously reported male probands with MEHMO carrying a frame-shift mutation (I465fs) in the EIF2S3 gene. Both probands had a neonatal hypoglycemia, early onset insulin-dependent diabetes, and hypopituitarism due to dysregulation and gradual decline of peptide hormone secretion. Based on the clinical course in our two probands and also in previously published patients, neonatal hypoglycemia followed by early-onset diabetes and hypopituitarism may be a consistent part of the MEHMO phenotype.
- MeSH
- diabetes mellitus 1. typu vrozené genetika MeSH
- endokrinní žlázy metabolismus MeSH
- epilepsie genetika MeSH
- eukaryotický iniciační faktor 2 genetika MeSH
- fenotyp MeSH
- hypoglykemie vrozené genetika MeSH
- hypogonadismus genetika MeSH
- hypopituitarismus vrozené genetika MeSH
- lidé MeSH
- mentální retardace vázaná na chromozom X genetika MeSH
- mikrocefalie genetika MeSH
- novorozenec MeSH
- obezita genetika MeSH
- pohlavní orgány abnormality MeSH
- posunová mutace MeSH
- transkripční faktory MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- EIF2S3 protein, human MeSH Prohlížeč
- Eif2s3y protein, mouse MeSH Prohlížeč
- eukaryotický iniciační faktor 2 MeSH
- transkripční faktory MeSH
- MeSH
- adrenalin farmakologie MeSH
- emoce fyziologie MeSH
- epilepsie temporálního laloku patofyziologie MeSH
- lidé MeSH
- limbický systém patofyziologie MeSH
- nemoci hypotalamu patofyziologie MeSH
- srdeční frekvence * účinky léků MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- adrenalin MeSH
