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Article

Congenital hypopituitarism due to POU1F1 gene mutation.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jan 2011

Lee Ni-Chung, Tsai Wen-Yu, Peng Shinn-Forng, Tung Yi-Ching, Chien Yin-Hsiu, Hwu Wuh-Liang

Abstract excerpt

POU1F1 (Pit-1; Gene ID 5449) is an anterior pituitary transcriptional factor, and POU1F1 mutation is known to cause anterior pituitary hypoplasia, growth hormone and prolactin deficiency and various degree of hypothyroidism. We report here a patient who presented with growth failure and central hypothyroidism since early infancy. However, treatment with thyroxine gave no effect and he subsequently developed calf...

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Identifiers

PMID: 21316014
DOI: 10.1016/S0929-6646(11)60009-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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