ESPEYB17 1. Pituitary and Neuroendocrinology Update on the Genetics of Hypopituitarism (4 abstracts)
1.1. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation
Gregory LC , Ferreira CB , Young-Baird SK , Williams HJ , Harakalova M , van Haaften G , Rahman SA , Gaston-Massuet C , Kelberman D , GO Sgene , Qasim W , Camper SA , Dever TE , Shah P , Robinson ICAF & Dattani MT
To read the full abstract: EBioMedicine. 2019 Apr;42:470–480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. PMID: 30878599.
Is everyone familiar with the MEHMO syndrome (OMIM #300148)? MEHMO is an acronym for mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. Previous studies show that patients with MEHMO carrying hemizygous severe loss-of-function mutations in EIF2S3, a gene encoding eIF2γ which is an important component of translation machinery, exhibit severe phenotypes such as microcephaly, epilepsy/seizures and pituitary hormone deficiencies and craniofacial phenotypes.
The current study reports a pedigree with three affected boys (twins and their maternal male cousin) with a missense EIF2S3 mutation and shows that the mutation causes only moderate loss of eIF2γ function and was associated with a less severe phenotype. Importantly, the authors show that the neonatal hypoglycemia in these patients is due to hyperinsulinism, and is followed by an unusual form of diabetes in the second decade of life.
Volume 17
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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