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Article

Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology.

Frontiers in endocrinology - 1 Jan 2024

Wang Shengjie, Qin Qiaozhen, Jiang Deyue, Xiao Yan, Ye Lingtong, Jiang Xiaoxia, Guo Qinghua

Abstract excerpt

Background: Pituitary stalk interruption syndrome (PSIS) is a complex clinical syndrome characterized by varied pituitary hormone deficiencies, leading to severe manifestations across multiple systems. These include lifelong infertility, short stature, mental retardation, and potentially life-threatening pituitary crises if not promptly diagnosed and treated. Despite extensive research, the precise pathogenesis...

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Identifiers

PMID: 38464967
DOI: 10.3389/fendo.2024.1338781
PMCID: PMC10920343

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