Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome

Title:

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome

Creator:

Juraj Staník, Škopková, M, Gasperiková, D, Iwar Klimeš, Jarmila Hornová, Tichá, L, Ľubomír Barák, Brennerová, K, and Staníková, D

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:810362fd-fbfe-4ac8-ae11-33fb67acc72c
uuid:810362fd-fbfe-4ac8-ae11-33fb67acc72c
issn:0862-8408

Subject:

fyziologie člověka, human physiology, MEHMO syndrome, EIF2S3, Diabetes, Hypopituitarism, 14, and 612

Type:

model:article and TEXT

Format:

print, bez média, and svazek

Description:

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 insulindependent 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 earlyonset diabetes and hypopituitarism may be a consistent part of the MEHMO phenotype., J. Staník, M. Škopková, D. Staníková, K. Brennerová, L. Barák, L. Tichá, J. Hornová, I. Klimeš, D. Gasperiková., and Seznam literatury

Language:

English

Rights:

http://creativecommons.org/publicdomain/mark/1.0/
policy:public

Source:

Physiological research | 2018 Volume:67 | Number:2

Harvested from:

CDK

Metadata only:

false