ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2021) 18 1.9 | DOI: 10.1530/ey.18.1.9

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 posterior pituitary (EPP) and PSIS. The affected patients had either multiple pituitary hormone deficiency (MPHD) or isolated growth hormone deficiency.

New players participating in the development of the hypothalamus and the pituitary gland are found regularly. The authors focused on these ligand-receptor pairs because of previous reports supporting their possible involvement in hypothalamic-pituitary axis development or function. They also showed that FAT2 and DCHS are expressed in the mesenchyme of developing human pituitary. When knocked out in a mouse model, the phenotype includes infundibular abnormalities and disturbance of the anterior pituitary morphogenesis. Nevertheless, all anterior pituitary cell types could be detected which, suggests that the etiology of MPHD caused by mutations is not defective cell differentiation.

All in all, we should keep FAT2 and DCHS2 gene defects in the differential diagnostic list of EPP and PSIS.

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