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Biomedicines
Special Issues
Novelties in Parathyroid Gland Diseases
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Novelties in Parathyroid Gland Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cell Biology and Pathology".

Deadline for manuscript submissions: closed (31 March 2021) | Viewed by 21452

Special Issue Editors

Dr. Andrea Palermo

E-Mail Website
Guest Editor
Unit of Endocrinology and Diabetes, Campus Bio-Medico University, 00128 Rome, Italy
Interests: PTH; hyperparathyroidism; hypoparathyroidism; calcium; phosphate; thyroid; diabetes
Special Issues, Collections and Topics in MDPI journals
Dr. Roberto Cesareo

E-Mail Website
Guest Editor
Unit of Metabolic Diseases, "S.M. Goretti" Hospital, Latina, Italy
Interests: parathyroid; hyperparathyroidism; hypoparathyroidism; vitamin D; thyroid nodules; thyroid thermoablation

Special Issue Information

Parathyroid gland disorders are particular conditions with an incidence that displays great variability among populations. The imbalance of calcium metabolism due to these pathological conditions can affect the health of many biological systems, such as bone, kidneys, heart, cardiovascular and neurological ones.

Despite the medical progress achieved in recent years, there are still many gaps in the knowledge, mainly regarding natural history and the potential chronic complications of these diseases.

Therefore, we cordially invite authors and investigators from this complex and fascinating field of interest to submit original research or review articles to this Special Issue. New basic or clinical studies on pathogenesis, diagnosis, and complications of parathyroid gland diseases will be taken into consideration.

Dr. Andrea Palermo
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • PTH
  • hyperparathyroidism
  • hypoparathyroidism
  • calcium
  • phosphate

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Published Papers (5 papers)

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Research

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14 pages, 2953 KiB  
Article
The Core Stem Genes SOX2, POU5F1/OCT4, and NANOG Are Expressed in Human Parathyroid Tumors and Modulated by MEN1, YAP1, and β-catenin Pathways Activation
by Chiara Verdelli, Annamaria Morotti, Giulia Stefania Tavanti, Rosamaria Silipigni, Silvana Guerneri, Stefano Ferrero, Leonardo Vicentini, Valentina Vaira and Sabrina Corbetta
Biomedicines 2021, 9(6), 637; https://doi.org/10.3390/biomedicines9060637 - 2 Jun 2021
Cited by 10 | Viewed by 3000
Abstract
Tumors of the parathyroid glands are the second most common endocrine neoplasia. Epigenetic studies revealed an embryonic signature involved in parathyroid tumorigenesis. Here, we investigated the expression of the stem core genes SOX2, POU5F1/OCT4, and NANOG. Rare cells within normal parathyroid glands [...] Read more.
Tumors of the parathyroid glands are the second most common endocrine neoplasia. Epigenetic studies revealed an embryonic signature involved in parathyroid tumorigenesis. Here, we investigated the expression of the stem core genes SOX2, POU5F1/OCT4, and NANOG. Rare cells within normal parathyroid glands expressed POU5F1/OCT4 and NANOG, while SOX2 was undetectable. Nuclear SOX2 expression was detectable in 18% of parathyroid adenomas (PAds, n = 34) involving 5–30% of cells, while OCT4 and NANOG were expressed at the nuclear level in a more consistent subset of PAds involving 15–40% of cells. Most parathyroid carcinomas expressed the core stem genes. SOX2-expressing cells co-expressed parathormone (PTH). In PAds-derived primary cultures, silencing of the tumor suppressor gene MEN1 induced the expression of SOX2, likely through a MEN1/HAR1B/SOX2 axis, while calcium-sensing receptor activation increased SOX2 mRNA levels through YAP1 activation. In addition, inducing nuclear β-catenin accumulation in PAds-derived primary cultures by short-term incubation with lithium chloride (LiCl), SOX2 and POU5F1/OCT4 expression levels increased, while NANOG transcripts were reduced, and LiCl long-term incubation induced an opposite pattern of gene expression. In conclusion, detection of the core stem genes in parathyroid tumors supports their embryogenic signature, which is modulated by crucial genes involved in parathyroid tumorigenesis. Full article
(This article belongs to the Special Issue Novelties in Parathyroid Gland Diseases)
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14 pages, 1111 KiB  
Article
mRNA Profiles of Porcine Parathyroid Glands Following Variable Phosphorus Supplies throughout Fetal and Postnatal Life
by Michael Oster, Henry Reyer, Christian Gerlinger, Nares Trakooljul, Puntita Siengdee, Jonas Keiler, Siriluck Ponsuksili, Petra Wolf and Klaus Wimmers
Biomedicines 2021, 9(5), 454; https://doi.org/10.3390/biomedicines9050454 - 22 Apr 2021
Cited by 7 | Viewed by 2669
Abstract
Knowledge of gene expression profiles reflecting functional features and specific responsiveness of parathyroid glands (PTGs) contributes to understanding mineral homeostasis and parathyroid function in healthy and diseased conditions. The study aims to reveal effector molecules driving the maintenance of phosphorus (P) homeostasis and [...] Read more.
Knowledge of gene expression profiles reflecting functional features and specific responsiveness of parathyroid glands (PTGs) contributes to understanding mineral homeostasis and parathyroid function in healthy and diseased conditions. The study aims to reveal effector molecules driving the maintenance of phosphorus (P) homeostasis and parathyroid hormone (PTH) responsiveness to variable P supply throughout fetal and postnatal life. In this study, a long-term dietary intervention was performed by keeping pig offspring on distinct mineral P levels throughout fetal and postnatal life. Respective adaptation processes of P homeostasis were assessed in mRNA profiles of PTGs and serum minerals. RNA sequencing data and resulting molecular pathways of PTGs showed that the PTH abundance is very strictly controlled via e.g., PIN1, CaSR, MAfB, PLC and PKA signaling to regulate PTH expression, stability, and secretion. Additionally, the observed dietary effects on collagen expression indicate shifts in the ratio between connective tissue and parenchyma, thereby affecting cell-cell contacts as another line of PTH regulation. Taken together, the mRNA profiles of porcine PTGs reflect physiological responses in-vivo following variable dietary P supplies during fetal and postnatal life. The results serve to evaluate a long-term nutrition strategy with implications for improving the mineral balance in individuals with pathological disorders. Full article
(This article belongs to the Special Issue Novelties in Parathyroid Gland Diseases)
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12 pages, 1665 KiB  
Article
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature
by Luigia Cinque, Cristina Angeletti, Alfredo Orrico, Stefano Castellana, Lucia Ferrito, Cristina Ciuoli, Tommaso Mazza, Marco Castori and Vito Guarnieri
Biomedicines 2020, 8(12), 631; https://doi.org/10.3390/biomedicines8120631 - 19 Dec 2020
Cited by 3 | Viewed by 2794
Abstract
Background. Autoimmune polyglandular syndrome type 1 (APS-1) with or without reversible metaphyseal dysplasia is a rare genetic disorder due to inactivating variants of the autoimmune regulator, AIRE, gene. Clinical variability of APS-1 relates to pleiotropy, and the general dysfunction of self-tolerance to [...] Read more.
Background. Autoimmune polyglandular syndrome type 1 (APS-1) with or without reversible metaphyseal dysplasia is a rare genetic disorder due to inactivating variants of the autoimmune regulator, AIRE, gene. Clinical variability of APS-1 relates to pleiotropy, and the general dysfunction of self-tolerance to organ-specific antigens and autoimmune reactions towards peripheral tissues caused by the underlying molecular defect. Thus, early recognition of the syndrome is often delayed, mostly in cases with atypical presentation, and the molecular confirm through the genetic analysis of the AIRE gene might be of great benefit. Methods. Our methods were to investigate, with a multigene panel next generation sequencing approach, two clinical cases, both presenting with idiopathic hypoparathyroidism, also comprising the AIRE gene; as well as to comment our findings as part of a more extensive review of literature data. Results. In the first clinical case, two compound heterozygote pathogenic variants of the AIRE gene were identified, thus indicating an autosomal recessive inheritance of the disease. In the second case, only one AIRE gene variant was found and an atypical dominant negative form of APS-1 suggested, later confirmed by further medical ascertainments. Conclusions. APS-1 might present with variable and sometimes monosymptomatic presentations and, if not recognized, might associate with severe complications. In this context, next generation diagnostics focused on a set of genes causative of partially overlapping disorders may allow early diagnosis. Full article
(This article belongs to the Special Issue Novelties in Parathyroid Gland Diseases)
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Review

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17 pages, 1289 KiB  
Review
Parathyroid Disease in Pregnancy and Lactation: A Narrative Review of the Literature
by Elena Tsourdi and Athanasios D. Anastasilakis
Biomedicines 2021, 9(5), 475; https://doi.org/10.3390/biomedicines9050475 - 26 Apr 2021
Cited by 6 | Viewed by 5928
Abstract
Pregnancy and lactation are characterized by sophisticated adaptations of calcium homeostasis, aiming to meet fetal, neonatal, and maternal calcium requirements. Pregnancy is primarily characterized by an enhancement of intestinal calcium absorption, whereas during lactation additional calcium is obtained through resorption from the maternal [...] Read more.
Pregnancy and lactation are characterized by sophisticated adaptations of calcium homeostasis, aiming to meet fetal, neonatal, and maternal calcium requirements. Pregnancy is primarily characterized by an enhancement of intestinal calcium absorption, whereas during lactation additional calcium is obtained through resorption from the maternal skeleton, a process which leads to bone loss but is reversible following weaning. These maternal adaptations during pregnancy and lactation may influence or confound the presentation, diagnosis, and management of parathyroid disorders such as primary hyperparathyroidism or hypoparathyroidism. Parathyroid diseases are uncommon in these settings but can be severe when they occur and may affect both maternal and fetal health. This review aims to delineate the changes in calcium physiology that occur with pregnancy and lactation, describe the disorders of calcium and parathyroid physiology that can occur, and outline treatment strategies for these diseases in the above settings. Full article
(This article belongs to the Special Issue Novelties in Parathyroid Gland Diseases)
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21 pages, 3795 KiB  
Review
Preoperative Localization for Primary Hyperparathyroidism: A Clinical Review
by Donovan Tay, Jeeban P. Das and Randy Yeh
Biomedicines 2021, 9(4), 390; https://doi.org/10.3390/biomedicines9040390 - 6 Apr 2021
Cited by 33 | Viewed by 6019
Abstract
With increasing use of minimally invasive parathyroidectomy (PTx) over traditional bilateral neck exploration in patients with primary hyperparathyroidism (PHPT), accurate preoperative localization has become more important to enable a successful surgical outcome. Traditional imaging techniques such as ultrasound (US) and sestamibi scintigraphy (MIBI) [...] Read more.
With increasing use of minimally invasive parathyroidectomy (PTx) over traditional bilateral neck exploration in patients with primary hyperparathyroidism (PHPT), accurate preoperative localization has become more important to enable a successful surgical outcome. Traditional imaging techniques such as ultrasound (US) and sestamibi scintigraphy (MIBI) and newer techniques such as parathyroid four-dimension computed tomography (4D-CT), positron emission tomography (PET), and magnetic resonance imaging (MRI) are available for the clinician to detect the diseased gland(s) in the preoperative workup. Invasive parathyroid venous sampling may be useful in certain circumstances such as persistent or recurrent PHPT. We review the diagnostic performance of these imaging modalities in preoperative localization and discuss the advantages and weaknesses of these techniques. US and MIBI are established techniques commonly utilized as first-line modalities. 4D-CT has excellent diagnostic performance and is increasingly performed in first-line setting and as an adjunct to US and MIBI. PET and MRI are emerging adjunct modalities when localization has been equivocal or failed. Since no evidence-based guidelines are yet available for the optimal imaging strategy, clinicians should be familiar with the range and advancement of these techniques. Choice of imaging modality should be individualized to the patient with consideration for efficacy, expertise, and availability of such techniques in clinical practice. Full article
(This article belongs to the Special Issue Novelties in Parathyroid Gland Diseases)
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