- Adrenal Gland
- A Novel Missense PRKAR1A Variant Causes Carney Complex
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Boram Kim, Han Na Jang, Kyung Shil Chae, Ho Seop Shin, Yong Hwy Kim, Su Jin Kim, Moon-Woo Seong, Jung Hee Kim
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Endocrinol Metab. 2022;37(5):810-815. Published online October 4, 2022
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DOI: https://doi.org/10.3803/EnM.2022.1544
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 Abstract
 PDF Supplementary Material PubReader  ePub  Crossref - TDM
- The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic analysis revealed a novel missense heterozygous variant of PRKAR1A (c.176A>T). Her relatives, suspected of having CNC, also carried the same variant. RNA analysis revealed that this variant led to nonsense-mediated mRNA decay. In vitro functional analysis of the variant confirmed its role in increasing protein kinase A activity and cyclic adenosine monophosphate levels. This study broadens our understanding of the genetic spectrum of CNC. We suggest that PRKAR1A genetic testing and counseling be recommended for patients with CNC and their families.
- Hypothalamus and Pituitary Gland
- Advances in Pituitary Surgery
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Yoon Hwan Byun, Ho Kang, Yong Hwy Kim
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Endocrinol Metab. 2022;37(4):608-616. Published online August 19, 2022
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DOI: https://doi.org/10.3803/EnM.2022.1546
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Abstract
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- Pituitary surgery has advanced considerably in recent years with the exploration and development of various endoscopic approaches and techniques. Different endoscopic skull base approaches are being applied to access sellar tumors in different locations. Moreover, extracapsular dissection and cavernous sinus exploration have enabled gross total resection of sellar tumors where it could not have been achieved in the past. Techniques for skull base reconstruction have also progressed, allowing surgeons to remove larger and more complicated tumors than before. This review article discusses different endoscopic skull base approaches, surgical techniques for removing pituitary adenomas, and reconstruction methods for repairing postoperative low-flow and high-flow cerebrospinal fluid leakage.
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Citations
Citations to this article as recorded by  - Serum and hair steroid profiles in patients with nonfunctioning pituitary adenoma undergoing surgery: A prospective observational study
Seung Shin Park, Yong Hwy Kim, Ho Kang, Chang Ho Ahn, Dong Jun Byun, Man Ho Choi, Jung Hee Kim
The Journal of Steroid Biochemistry and Molecular Biology.2023; 230: 106276. CrossRef - Pituitary disease and anaesthesia
Kim Rhodes, Robert John, Astri Luoma
Anaesthesia & Intensive Care Medicine.2023; 24(6): 348. CrossRef - Орфанні ендокринні захворювання: сучасні тенденції хірургічного лікування в Україні
M.D. Tronko, B.B. Guda
Endokrynologia.2022; 27(4): 287. CrossRef
- Endocrine Research
- Transcriptome Analysis Identifies an Attenuated Local Immune Response in Invasive Nonfunctioning Pituitary Adenomas
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Yong Hwy Kim, Jung Hee Kim
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Endocrinol Metab. 2019;34(3):314-322. Published online September 26, 2019
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DOI: https://doi.org/10.3803/EnM.2019.34.3.314
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Correction in: Endocrinol Metab 2020;35(4):965
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4,436
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Abstract
PDFSupplementary MaterialPubReader ePub Crossref - TDM
- Background
Invasive nonfunctioning pituitary adenomas (NFPAs) remain challenging due to their high complication rate and poor prognosis. We aimed to identify the distinctive molecular signatures of invasive NFPAs, compared with noninvasive NFPAs, using gene expression profiling by RNA sequencing. MethodsWe obtained frozen fresh tissue samples from 14 patients with NFPAs who underwent primary transsphenoidal surgery. Three non-invasive and 11 invasive NFPAs were used for RNA sequencing. The bioinformatics analysis included differential gene expression, gene ontology analysis, and pathway analysis. ResultsA total of 700 genes were differentially expressed (59 up-regulated and 641 down-regulated genes) between invasive and non-invasive NFPAs (false discovery rate <0.1, and |fold change| ≥2). Using the down-regulated genes in invasive NFPAs, gene ontology enrichment analyses and pathway analyses demonstrated that the local immune response was attenuated and that transforming growth factor-β (TGF-β) RII-initiated TGF-β signaling was down-regulated in invasive NFPAs. The overexpression of claudin-9 (CLDN9) and the down-regulation of insulin-like growth factor-binding protein 5 (IGFBP5), death-associated protein kinase 1 (DAPK1), and tissue inhibitor of metalloproteinase-3 (TIMP3) may be related with invasiveness in NFPAs. ConclusionInvasive NFPAs harbor different gene expression profiles relative to noninvasive NFPAs. In particular, local suppression of the immune response and TGF-β signaling can make PAs prone to invasiveness.
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Citations
Citations to this article as recorded by - Transcriptome of GH-producing pituitary neuroendocrine tumours and models are significantly affected by somatostatin analogues
Rihards Saksis, Olesja Rogoza, Helvijs Niedra, Kaspars Megnis, Ilona Mandrika, Inga Balcere, Liva Steina, Janis Stukens, Austra Breiksa, Jurijs Nazarovs, Jelizaveta Sokolovska, Ilze Konrade, Raitis Peculis, Vita Rovite
Cancer Cell International.2023;[Epub] CrossRef - Muti-omics integration analysis revealed molecular network alterations in human nonfunctional pituitary neuroendocrine tumors in the framework of 3P medicine
Siqi Wen, Chunling Li, Xianquan Zhan
EPMA Journal.2022; 13(1): 9. CrossRef - A systematic review of molecular alterations in invasive non-functioning pituitary adenoma
Nazanin Hosseinkhan, Maryam Honardoost, Zahra Emami, Sara Cheraghi, Nahid Hashemi-Madani, Mohammad E. Khamseh
Endocrine.2022; 77(3): 500. CrossRef - Medication for Acromegaly Reduces Expression of MUC16, MACC1 and GRHL2 in Pituitary Neuroendocrine Tumour Tissue
Rihards Saksis, Ivars Silamikelis, Pola Laksa, Kaspars Megnis, Raitis Peculis, Ilona Mandrika, Olesja Rogoza, Ramona Petrovska, Inga Balcere, Ilze Konrade, Liva Steina, Janis Stukens, Austra Breiksa, Jurijs Nazarovs, Jelizaveta Sokolovska, Valdis Pirags,
Frontiers in Oncology.2021;[Epub] CrossRef - Large Scale Molecular Studies of Pituitary Neuroendocrine Tumors: Novel Markers, Mechanisms and Translational Perspectives
Raitis Peculis, Helvijs Niedra, Vita Rovite
Cancers.2021; 13(6): 1395. CrossRef - Nkx3-1 and Fech genes might be switch genes involved in pituitary non-functioning adenoma invasiveness
Nasibeh Khayer, Maryam Jalessi, Amin Jahanbakhshi, Alireza Tabib khooei, Mehdi Mirzaie
Scientific Reports.2021;[Epub] CrossRef - The tumour microenvironment of pituitary neuroendocrine tumours
Pedro Marques, Ashley B. Grossman, Márta Korbonits
Frontiers in Neuroendocrinology.2020; 58: 100852. CrossRef - The Progress of Immunotherapy in Refractory Pituitary Adenomas and Pituitary Carcinomas
Congxin Dai, Siyu Liang, Bowen Sun, Jun Kang
Frontiers in Endocrinology.2020;[Epub] CrossRef
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