Research Topic

Molecular-Genetic Causes Underlying Primary Adrenal Insufficiency: Current Insights into Diagnosis and Treatments

About this Research Topic

The adrenal cortex produces hormones which are necessary for normal body
functioning, deficiency of these hormones results in adrenal insufficiency (AI). Destruction or dysfunction of the adrenal cortex mainly causes glucocorticoid and mineralocorticoid deficiency ranging from mild nonspecific symptoms to life-threatening shock conditions. AI is classified as primary, secondary or tertiary when the disease may result from disorders affecting the adrenal cortex, the anterior pituitary gland or the hypothalamus, respectively.

Primary AI (PAI) is characterized by decreased aldosterone and cortisol production due
to diminished gland function. Several causes have been implicated in PAI, including autoimmune conditions -mainly Addison disease- infectious agents, drugs, as well as genetic conditions. Interestingly, some of these genetic defects have been found in recent years, including variations in novel genes revealed by NGS approaches that contribute to solved undiagnosed patients. Nevertheless, and despite this significant progress, there are still numerous challenges regarding the diagnosis and treatment of patients with PAI.

The aim of this proposal is to join in a single issue the most current state of the art and
novel insights on the genetic etiology of PAI, putting together a comprehensive compendium of the causes, diagnosis, and treatments of the different diseases accounting for this condition. We may focus on authors contributions on its many genetic causes, introducing not only monogenic causes, but also genetic factors related to an increased risk for the autoimmune conditions. As several defects manifest with overlapping symptoms, we aim readers to also be able to find differential clinical criteria, biochemical, and/or molecular approaches for an accurate diagnosis of the diseases, and to be aware of the existence of rare genetic conditions often underestimated in clinical practice. In addition, an up to date overview of the molecular mechanism underlying the development of PAI and any potential new treatment would be of relevance as important subjects to include in our proposal topic when calling for authors of contributing papers.

Finally, all types of contributing manuscripts will be accepted. We will encourage
authors to communicate their most recent results as original papers or short communications. Perspective, and expert opinions will be also welcome. Additionally, we propose to call outstanding referents for contributing with full and/or mini reviews discussing the most relevant subjects in the field.  


Keywords: Adrenal insufficiency, primary adrenal insufficiency, genetic causes, diagnosis, molecular mechanism


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

The adrenal cortex produces hormones which are necessary for normal body
functioning, deficiency of these hormones results in adrenal insufficiency (AI). Destruction or dysfunction of the adrenal cortex mainly causes glucocorticoid and mineralocorticoid deficiency ranging from mild nonspecific symptoms to life-threatening shock conditions. AI is classified as primary, secondary or tertiary when the disease may result from disorders affecting the adrenal cortex, the anterior pituitary gland or the hypothalamus, respectively.

Primary AI (PAI) is characterized by decreased aldosterone and cortisol production due
to diminished gland function. Several causes have been implicated in PAI, including autoimmune conditions -mainly Addison disease- infectious agents, drugs, as well as genetic conditions. Interestingly, some of these genetic defects have been found in recent years, including variations in novel genes revealed by NGS approaches that contribute to solved undiagnosed patients. Nevertheless, and despite this significant progress, there are still numerous challenges regarding the diagnosis and treatment of patients with PAI.

The aim of this proposal is to join in a single issue the most current state of the art and
novel insights on the genetic etiology of PAI, putting together a comprehensive compendium of the causes, diagnosis, and treatments of the different diseases accounting for this condition. We may focus on authors contributions on its many genetic causes, introducing not only monogenic causes, but also genetic factors related to an increased risk for the autoimmune conditions. As several defects manifest with overlapping symptoms, we aim readers to also be able to find differential clinical criteria, biochemical, and/or molecular approaches for an accurate diagnosis of the diseases, and to be aware of the existence of rare genetic conditions often underestimated in clinical practice. In addition, an up to date overview of the molecular mechanism underlying the development of PAI and any potential new treatment would be of relevance as important subjects to include in our proposal topic when calling for authors of contributing papers.

Finally, all types of contributing manuscripts will be accepted. We will encourage
authors to communicate their most recent results as original papers or short communications. Perspective, and expert opinions will be also welcome. Additionally, we propose to call outstanding referents for contributing with full and/or mini reviews discussing the most relevant subjects in the field.  


Keywords: Adrenal insufficiency, primary adrenal insufficiency, genetic causes, diagnosis, molecular mechanism


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

About Frontiers Research Topics

With their unique mixes of varied contributions from Original Research to Review Articles, Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author.

Topic Editors

Loading..

Submission Deadlines

31 May 2021 Abstract
31 August 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

Loading..

Topic Editors

Loading..

Submission Deadlines

31 May 2021 Abstract
31 August 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

Loading..
Loading..

total views article views article downloads topic views

}
 
Top countries
Top referring sites
Loading..