ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Rev Endocrinol 2017;13:588-598Central hypothyroidism has received much interest in recent years, partly due to the discovery of new causal gene mutations. This is a comprehensive review on several aspects of central hypothyroidism. It discusses prevalence, and its variation between different countries; pitfalls in diagnosis, including assay interference; concurrent...

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...