Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

• Published in: Frontiers in endocrinology (Lausanne) Vol. 14; p. 1166076
• Main Authors: Trivellin, Giampaolo, Daly, Adrian F., Hernández-Ramírez, Laura C., Araldi, Elisa, Tatsi, Christina, Dale, Ryan K., Fridell, Gus, Mittal, Arjun, Faucz, Fabio R., Iben, James R., Li, Tianwei, Vitali, Eleonora, Stojilkovic, Stanko S., Kamenicky, Peter, Villa, Chiara, Baussart, Bertrand, Chittiboina, Prashant, Toro, Camilo, Gahl, William A., Eugster, Erica A., Naves, Luciana A., Jaffrain-Rea, Marie-Lise, de Herder, Wouter W., Neggers, Sebastian JCMM, Petrossians, Patrick, Beckers, Albert, Lania, Andrea G., Mains, Richard E., Eipper, Betty A., Stratakis, Constantine A.
• Format: Journal Article Web Resource
• Language: English
• Published: Switzerland Frontiers 14.06.2023; Frontiers Media S.A
• Subjects: acromegaly; amidation; Child; Cushing disease; DNA Copy Number Variations; Endocrinologie, métabolisme & nutrition; Endocrinology; Endocrinology, metabolism & nutrition; gigantism; Human health and pathology; Human health sciences; Humans; Life Sciences; Mixed Function Oxygenases; peptidylglycine α-amidating monooxygenase; Pituitary Diseases; Pituitary Gland; Pituitary Neoplasms - genetics; pituitary tumors; Sciences de la santé humaine; amidation; gigantism; peptidylglycine α-amidating monooxygenase; acromegaly; Cushing disease; pituitary tumors; peptidylglycine a-amidating monooxygenase amidation gigantism acromegaly Cushing disease pituitary tumors; peptidylglycine a-amidating monooxygenase

Pituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral impingement on vital brain structures. PAM encodes a multifunctio...