A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression.
Suzuki S, Matsuo K, Ito Y, Kobayashi A, Kokumai T, Furuya A, Ueda O, Mukai T, Yano K, Fujieda K, Okuno A, Tanahashi Y, Azuma H.
Suzuki S, et al. Among authors: furuya a.
Eur J Endocrinol. 2021 May 21;185(1):1-12. doi: 10.1530/EJE-20-1313.
Eur J Endocrinol. 2021.
PMID: 33886498
CONCLUSIONS: We describe, for the first time, that the PIT-1beta mutation can cause CPHD through a novel genetic mechanism, such as PIT-1beta overexpression, and that POU1F1 mutation might be associated with a prolactinoma. Analysis of new patients and long-term follow-up …
CONCLUSIONS: We describe, for the first time, that the PIT-1beta mutation can cause CPHD through a novel genetic mechanism, such as PIT-1bet …