ISSN 1662-4009 (online)

ey0015.1-6 | New mechanisms | ESPEYB15

1.6 Hypothalamic sonic hedgehog is required for cell specification and proliferation of LHX3/LHX4 pituitary embryonic precursors

G Carreno , JR Apps , EJ Lodge , L Panousopoulos , S Haston , JM Gonzalez-Meljem , H Hahn , CL Andoniadou , JP Martinez-Barbera

To read the full abstract: Development 2017;144:3289-3302Aberrant development of the anterior pituitary can lead to congenital hypopituitarism (CH) in humans and hence understanding how this organ develops is critical to understand CH. The anterior pituitary develops in intimate contact with the prospective hypothalamus, which secretes growth factors that are required for the pituitary gland to grow...

ey0018.1-9 | Genetics | ESPEYB18

1.9. Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development

EJ Lodge , P Xekouki , TS Silva , C Kochi , CA Longui , FR Faucz , A Santambrogio , JL Mills , N Pankratz , J Lane , D Sosnowska , T Hodgson , AL Patist , P Francis-West , F Helmbacher , C Stratakis , CL Andoniadou

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...