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.
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
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