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Endocrine Practice : Official Journal... Dec 2023The aim of this review was to provide a practical approach for clinicians regarding the diagnosis and management of pheochromocytomas and paragangliomas (PPGLs). (Review)
Review
OBJECTIVE
The aim of this review was to provide a practical approach for clinicians regarding the diagnosis and management of pheochromocytomas and paragangliomas (PPGLs).
METHODS
A literature search of PubMed was carried out using key words, including pheochromocytoma, paraganglioma, treatment, diagnosis, screening, and management. The discussion of diagnosis and management of PPGL is based on the evidence available from prospective studies when available and mostly from cohort studies, cross-sectional studies, and expert consensus.
RESULTS
PPGL are neuroendocrine tumors arising from the chromaffin cells of adrenal medulla and sympathetic and parasympathetic ganglia, respectively. PPGL can be localized or metastatic, and they may secrete catecholamines, causing a variety of symptoms and potentially catastrophic and lethal complications if left untreated. The rarity of these tumors along with heterogeneous clinical presentation often poses challenges for the diagnosis and management. PPGL can be associated with several familial syndromes which are important to recognize.
CONCLUSION
The last few years have witnessed an exponential growth in the knowledge around PPGL. This review aims at providing a comprehensive discussion of current concepts for clinicians regarding clinical presentation, diagnostic tools, and management strategies for PPGL.
Topics: Humans; Pheochromocytoma; Prospective Studies; Cross-Sectional Studies; Paraganglioma; Adrenal Gland Neoplasms
PubMed: 37586639
DOI: 10.1016/j.eprac.2023.07.027 -
Endocrinology and Metabolism (Seoul,... Aug 2023Adrenal incidentalomas represent an increasingly common clinical conundrum with significant implications for patients. The revised 2023 European Society of Endocrinology... (Review)
Review
Adrenal incidentalomas represent an increasingly common clinical conundrum with significant implications for patients. The revised 2023 European Society of Endocrinology (ESE) guideline incorporates cutting-edge evidence for managing adrenal incidentalomas. This paper provides a concise review of the updated contents of the revised guideline. In the 2023 guideline, in patients without signs and symptoms of overt Cushing's syndrome, a post-dexamethasone cortisol level above 50 nmol/L (>1.8 μg/dL) should be considered as mild autonomous cortisol secretion. Regarding the criteria of benign adrenal adenomas, a homogeneous adrenal mass with ≤10 Hounsfield units on non-contrast computed tomography requires no further follow-up, irrespective of its size. The updated guideline also discusses steroid metabolomics using tandem mass spectrometry to discriminate malignancy. It underscores the importance of high-volume surgeons performing adrenalectomy and emphasizes the pivotal role of a multidisciplinary team approach in deciding the treatment plan for indeterminate adrenal masses. The guideline advocates for more proactive surgical treatment for indeterminate adrenal masses in young patients (<40 years) and pregnant women. This review of the 2023 ESE guideline underscores the ongoing evolution of the adrenal incidentaloma management landscape, emphasizing the need for further research and adaptation of diagnostic and therapeutic strategies.
Topics: Pregnancy; Humans; Female; Adrenal Gland Neoplasms; Hydrocortisone; Cushing Syndrome; Adrenalectomy
PubMed: 37583083
DOI: 10.3803/EnM.2023.1779 -
JCI Insight Jul 2023The adrenal glands synthesize and release essential steroid hormones such as cortisol and aldosterone, but many aspects of human adrenal gland development are not well...
The adrenal glands synthesize and release essential steroid hormones such as cortisol and aldosterone, but many aspects of human adrenal gland development are not well understood. Here, we combined single-cell and bulk RNA sequencing, spatial transcriptomics, IHC, and micro-focus computed tomography to investigate key aspects of adrenal development in the first 20 weeks of gestation. We demonstrate rapid adrenal growth and vascularization, with more cell division in the outer definitive zone (DZ). Steroidogenic pathways favored androgen synthesis in the central fetal zone, but DZ capacity to synthesize cortisol and aldosterone developed with time. Core transcriptional regulators were identified, with localized expression of HOPX (also known as Hop homeobox/homeobox-only protein) in the DZ. Potential ligand-receptor interactions between mesenchyme and adrenal cortex were seen (e.g., RSPO3/LGR4). Growth-promoting imprinted genes were enriched in the developing cortex (e.g., IGF2, PEG3). These findings reveal aspects of human adrenal development and have clinical implications for understanding primary adrenal insufficiency and related postnatal adrenal disorders, such as adrenal tumor development, steroid disorders, and neonatal stress.
Topics: Infant, Newborn; Humans; Aldosterone; Hydrocortisone; Adrenal Glands; Adrenal Cortex; Steroids; Homeodomain Proteins
PubMed: 37440461
DOI: 10.1172/jci.insight.168177 -
Frontiers in Endocrinology 2023Adrenal insufficiency encompasses a group of congenital and acquired disorders that lead to inadequate steroid production by the adrenal glands, mainly glucocorticoids,... (Review)
Review
Adrenal insufficiency encompasses a group of congenital and acquired disorders that lead to inadequate steroid production by the adrenal glands, mainly glucocorticoids, mineralocorticoids and androgens. These may be associated with other hormone deficiencies. Adrenal insufficiency may be primary, affecting the adrenal gland's ability to produce cortisol directly; secondary, affecting the pituitary gland's ability to produce adrenocorticotrophic hormone (ACTH); or tertiary, affecting corticotrophin-releasing hormone (CRH) production at the level of the hypothalamus. Congenital causes of adrenal insufficiency include the subtypes of Congenital Adrenal Hyperplasia, Adrenal Hypoplasia, genetic causes of Isolated ACTH deficiency or Combined Pituitary Hormone Deficiencies, usually caused by mutations in essential transcription factors. The most commonly inherited primary cause of adrenal insufficiency is Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency; with the classical form affecting 1 in 10,000 to 15,000 cases per year. Acquired causes of adrenal insufficiency can be subtyped into autoimmune (Addison's Disease), traumatic (including haemorrhage or infarction), infective (e.g. Tuberculosis), infiltrative (e.g. neuroblastoma) and iatrogenic. Iatrogenic acquired causes include the use of prolonged exogenous steroids and post-surgical causes, such as the excision of a hypothalamic-pituitary tumour or adrenalectomy. Clinical features of adrenal insufficiency vary with age and with aetiology. They are often non-specific and may sometimes become apparent only in times of illness. Features range from those related to hypoglycaemia such as drowsiness, collapse, jitteriness, hypothermia and seizures. Features may also include signs of hypotension such as significant electrolyte imbalances and shock. Recognition of hypoglycaemia as a symptom of adrenal insufficiency is important to prevent treatable causes of sudden deaths. Cortisol has a key role in glucose homeostasis, particularly in the counter-regulatory mechanisms to prevent hypoglycaemia in times of biological stress. Affected neonates particularly appear susceptible to the compromise of these counter-regulatory mechanisms but it is recognised that affected older children and adults remain at risk of hypoglycaemia. In this review, we summarise the pathogenesis of hypoglycaemia in the context of adrenal insufficiency. We further explore the clinical features of hypoglycaemia based on different age groups and the burden of the disease, focusing on hypoglycaemic-related events in the various aetiologies of adrenal insufficiency. Finally, we sum up strategies from published literature for improved recognition and early prevention of hypoglycaemia in adrenal insufficiency, such as the use of continuous glucose monitoring or modifying glucocorticoid replacement.
Topics: Child; Adult; Infant, Newborn; Humans; Adolescent; Hydrocortisone; Adrenal Hyperplasia, Congenital; Blood Glucose Self-Monitoring; Blood Glucose; Adrenal Insufficiency; Glucocorticoids; Adrenocorticotropic Hormone; Hypoglycemia; Iatrogenic Disease
PubMed: 38053731
DOI: 10.3389/fendo.2023.1198519 -
Nature Reviews. Endocrinology Jul 2023Adrenal cysts are rare lesions representing approximately 1-2% of adrenal incidentalomas. The majority of these rare lesions are benign. Rarely, phaeochromocytomas and... (Review)
Review
Adrenal cysts are rare lesions representing approximately 1-2% of adrenal incidentalomas. The majority of these rare lesions are benign. Rarely, phaeochromocytomas and adrenal malignant masses can present as cystic lesions and can occasionally be difficult to distinguish from benign cysts. Histologically, adrenal cysts are subdivided into pseudocysts, endothelial cysts, epithelial cysts and parasitic cysts. The radiological appearance of an adrenal cyst is generally similar to that of cysts in the kidney. They are thus well demarcated, usually rounded, with a thin wall and homogenous internal structure, low attenuating (<20 Hounsfield Units) on CT, low signalling on T1-weighted MRI sequences and high signalling on T2-weighted MRI sequences, and anechoic or hypoechoic on ultrasonography. Benign adrenal cysts have a slight female predominance and are usually diagnosed between the ages of 40 and 60. Most adrenal cysts are asymptomatic and are detected incidentally, although very large adrenal cysts can lead to mass effect symptoms, with surgery required to alleviate the symptoms. Thus, conservative management is usually recommended for asymptomatic cysts. However, when uncertainty exists regarding the benign nature of the cyst, additional work-up or follow-up is needed. The management of an adrenal cyst should preferably be discussed at an adrenal multidisciplinary team meeting.
Topics: Humans; Female; Adult; Middle Aged; Male; Adrenal Gland Neoplasms; Tomography, X-Ray Computed; Adrenal Gland Diseases; Pheochromocytoma; Cysts; Diagnosis, Differential
PubMed: 37095252
DOI: 10.1038/s41574-023-00835-2