Neonatal Hypoglycemia, Early-Onset Diabetes and Hypopituitarism Due to the Mutation in EIF2S3 Gene Causing MEHMO Syndrome
| Autor: | L Barak, J Hornova, Martina Skopkova, Katarina Brennerova, Stanikova D, Iwar Klimes, Daniela Gasperikova, Lubica Ticha, Juraj Stanik |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Proband Pediatrics medicine.medical_specialty Microcephaly Physiology Eukaryotic Initiation Factor-2 030209 endocrinology & metabolism Hypopituitarism Hypoglycemia Gene mutation Epilepsy 03 medical and health sciences 0302 clinical medicine Endocrine Glands Diabetes mellitus medicine Humans Peptide hormone secretion Genitalia Obesity Frameshift Mutation business.industry Hypogonadism Neonatal hypoglycemia Infant Newborn General Medicine medicine.disease Diabetes Mellitus Type 1 Phenotype 030104 developmental biology Mental Retardation X-Linked business Transcription Factors |
| Zdroj: | Physiological Research. :331-337 |
| ISSN: | 1802-9973 0862-8408 |
| DOI: | 10.33549/physiolres.933689 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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