The Genetic Pathophysiology and Clinical Management of the TADopathy, X-Linked Acrogigantism
Pituitary gigantism is a rare manifestation of chronic growth hormone (GH) excess that
begins before closure of the growth plates. Nearly half of pituitary gigantism patients have an …
begins before closure of the growth plates. Nearly half of pituitary gigantism patients have an …
PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas
SMC De Sousa, A Shen, CJ Yates… - Frontiers in …, 2023 - frontiersin.org
Introduction Germline loss-of-function variants in PAM, encoding peptidylglycine α-
amidating monooxygenase (PAM), were recently discovered to be enriched in conditions of …
amidating monooxygenase (PAM), were recently discovered to be enriched in conditions of …
Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas
SMC De Sousa, A McCormack… - The Journal of …, 2024 - academic.oup.com
Context CHEK2 is a cell cycle checkpoint regulator gene with a long-established role as a
clinically relevant, moderate risk breast cancer predisposition gene, with greater risk …
clinically relevant, moderate risk breast cancer predisposition gene, with greater risk …
Germline mutations in young-onset sporadic pituitary macroadenomas: a multigene panel analysis
LM Gaspar, CI Gonçalves, EL Nobre, F Fonseca… - medRxiv, 2024 - medrxiv.org
Objective: Mutations in several genes have been associated with familial forms of pituitary
adenomas. Sporadic pituitary adenomas (ie with no family history or coexistent endocrine …
adenomas. Sporadic pituitary adenomas (ie with no family history or coexistent endocrine …
Klinisch aktive Hypophysentumoren
N Unger, M Theodoropoulou, K Schilbach - Die Innere Medizin, 2024 - Springer
Durch die Zunahme der bildgebenden Untersuchungen nimmt auch die Diagnosehäufigkeit
hypophysärer Raumforderungen (Hypophyseninzidentalome) zu. Ein Großteil der …
hypophysärer Raumforderungen (Hypophyseninzidentalome) zu. Ein Großteil der …