Introduction
Epidemiological studies on the incidence of Cushing's syndrome (CS) are few and most often includes only patients with the most common form, that is Cushing's disease (CD).
Objective
To ...analyse the incidence of endogenous CS in an unselected cohort of patients from western Sweden between 2002 and 2017.
Methods
Medical records from patients who had received a diagnostic code for CS and adrenocortical carcinoma in the Västra Götaland County between 2002 and 2017 were reviewed. Eighty‐two patients had been diagnosed with endogenous CS in the region during the study period and were included in this analysis.
Results
Thirty‐nine patients (48%) had CD, 21 (26%) had ectopic ACTH‐producing tumour, 17 (21%) had a benign adrenal CS, and 5 (6%) had cortisol‐producing adrenocortical carcinoma. Nine of 21 (43%) patients with ectopic CS had an ACTH‐producing lung tumour, 4 had a neuroendocrine pancreas tumour, and 5 had an occult tumour. The annual incidence of endogenous CS was 3.2 cases per million/y; 1.5 for CD, 0.8 for ectopic CS, 0.7 for benign adrenal CS and 0.2 for adrenocortical carcinoma.
Conclusions
Approximately three new cases of endogenous CS, per one million inhabitants, were diagnosed annually between 2002 and 2017. Compared with previous reports, proportionally more patients had ectopic CS. The reason for this is unclear although increased awareness of hypercortisolism in patients with malignant tumours in the modern era is a possible explanation.
Cognitive impairment and affective disorders are common in patients with Cushing's syndrome (CS). In fact, as an effect of prolonged cortisol excess on the brain, patients with CS often have memory ...problems, concentration difficulties, impaired attention and executive function, that are not always reversible following successful treatment. Neuroimaging is essential for understanding the deleterious effects of hypercortisolism on the brain. In CS, structural alterations have been observed, including reduction of hippocampal volume, amygdala and the prefrontal cortex. The aim of this article is to summarize results from studies that have used functional magnetic resonance imaging (fMRI) to study functional brain alterations in patients with CS. In these studies, alterations in brain areas and networks essential for cognitive function, emotional processing, and executive function have been observed, both in patients with active CS as well as following treatment. Nevertheless, longitudinal studies with a comprehensive evaluation of functional brain alterations and neurocognitive evaluation are still needed to determine whether the apparent deleterious effects of hypercortisolism on the brain are reversible or not.
ObjectiveThe number of studies on the incidence of pituitary adenomas (PAs) is limited. The aim of this study was to evaluate the standardised incidence rate (SIR) of PAs in western Sweden.Design, ...subjects and methodsData from adult patients diagnosed with PAs in 2001–2011, living in the Västra Götaland County, were collected from the Swedish Pituitary Registry (SPR). In addition, medical records on all patients diagnosed with PAs at the six hospitals in the region were reviewed. In total, 592 patients were included in the study.Age-SIR, given as rate/100 000 inhabitants (95% CI), was calculated using the WHO 2000 standard population as a reference.ResultsThe total SIR for PAs was 3.9/100 000 (3.6–4.3); 3.3/100 000 (2.9–3.7) for men and 4.7/100 000 (4.1–5.3) for women. In men, SIR increased with age, while in women SIR peaked at 25–34 years, mainly due to prolactinomas. Non-functioning PA (NFPA) was the most common PA (54%, 1.8/100 000 (1.6–2.0)) followed by prolactinomas (32%, 1.6/100 000 (1.3–1.9)), acromegaly (9%, 0.35/100 000 (0.25–0.45)), Cushing's disease (4%, 0.18/100 000 (0.11–0.25)) and TSH-producing PA (0.7%, 0.03/100 000 (0.00–0.05)). The proportion of macroadenomas for NFPA was 82%, prolactinomas 37%, GH-producing PA 77%, ACTH-producing PA 28% and TSH-producing PA 100%. The lifetime risk for PAs was 0.27% (0.24–0.31) in men and 0.29% (0.26–0.33) in women.ConclusionThis study provides a reliable estimate on the overall incidence of PAs and confirms an increased incidence of PAs compared with studies conducted in the pre-magnetic resonance imaging era. The lower proportion of prolactinomas compared with previous studies is probably explained by the different criteria used.
Purpose
Non-functioning pituitary adenomas (NFPAs) are associated with impaired well-being, increased comorbidities, and reduced long-term survival. Data on optimal management of NFPAs around ...surgical treatment are scarce, and postoperative treatment and follow-up strategies have not been evaluated in prospective trials. Here, we review the preoperative, perioperative, and early postoperative management of patients with NFPAs.
Methods
We searched Medline and the Cochrane Library for articles published in English with the following items “Pituitary neoplasms AND Surgery” and “Surgery AND Hypopituitarism”. Studies containing detailed analyses of the management of NFPAs in adult patients, including pituitary surgery, endocrine care, imaging, ophthalmologic assessment and long-term outcome were reviewed.
Results
Treatment options for NFPAs include active surveillance, surgical resection, and radiotherapy. Pituitary surgery is currently recommended as first-line treatment in patients with visual impairment due to adenomas compressing the optic nerves or chiasma. Radiotherapy is reserved for large tumor remnants or tumor recurrence following one or more surgical attempts. There is no consensus of optimal pre-, peri-, and postoperative management such as timing, frequency, and duration of endocrine, radiologic, and ophthalmologic assessments as well as management of smaller tumor remnants or tumor recurrence.
Conclusions
In clinical practice, there is a great variation in the treatment and follow-up of patients with NFPAs. We have, based on available data, suggested an optimal management strategy for patients with NFPAs in relation to pituitary surgery. Prospective trials oriented at drawing up strategies for the management of NFPAs are needed.
Ectopic ACTH- and/or CRH-Producing Pheochromocytomas Elliott, Patrick F; Berhane, Thomas; Ragnarsson, Oskar ...
The journal of clinical endocrinology and metabolism,
02/2021, Letnik:
106, Številka:
2
Journal Article
Recenzirano
Odprti dostop
Abstract
Context
The characteristics of catecholamine-secreting pheochromocytomas have been well studied. However, less is known about the characteristics, management and outcome in patients with ...ectopic adrenocorticotropic hormone (ACTH) and/or corticotrophin-releasing hormone (CRH)-secreting pheochromocytomas.
Objective
To review the characteristics and outcomes of ACTH- and/or CRH-secreting pheochromocytomas.
Data Source
A systematic search of PubMed/MEDLINE and Web of Science, identifying relevant reports published up to 10 February 2020.
Study Selection
Original articles, including case reports and case series, reporting individual patient data from patients with ACTH- and/or CRH-secreting pheochromocytomas.
Data extraction
Information on sex, age, symptoms at presentation, comorbidities, biochemistry, imaging, histopathology, and outcomes was extracted.
Data Synthesis
We identified 91 articles reporting on 99 cases of ACTH- and/or CRH-secreting pheochromocytomas (CRH-secreting n = 4). Median age at diagnosis was 49 years (interquartile range 38-59.5) with a 2:1 female to male ratio. Most patients presented with clinical Cushing syndrome (n = 79; 81%), hypertension (n = 87; 93%), and/or diabetes (n = 50; 54%). Blood pressure, glucose control, and biochemical parameters improved in the vast majority of patients postoperatively. Infections were the most common complication. Most cases (n = 70, 88%) with reported long-term outcome survived to publication (median follow-up 6 months).
Conclusion
Ectopic ACTH- and/or CRH-secreting pheochromocytoma should be considered in patients presenting with ACTH-dependent Cushing syndrome and adrenal mass. Despite the challenge in diagnosis, patient outcomes appear favorable.
Purpose
Data guiding management of pheochromocytoma and paraganglioma (PPGL) in pregnant women is limited, and long-term effects on the child are unknown. The aim of this retrospective registry-based ...case-cohort study was to assess how maternal PPGL and treatment impacts maternal and fetal outcome, including long-term outcome for the child. The main outcomes were maternal and fetal mortality and morbidity at delivery and relative healthcare consumption in children born by mothers with PPGL during pregnancy.
Methods
The National Birth Register identified 4,390,869 pregnancies between 1973–2015. Data was crosslinked with three Swedish national registers to identify women diagnosed with pheochromocytoma or paraganglioma within one year before or after childbirth. Hospital records were reviewed and register data was collected for five age-matched controls for each child until age 18.
Results
21 women and 23 children were identified (incidence 4.8/1.000.000 births/year), all women with adrenal pheochromocytomas (Pc). The majority (71%) were diagnosed post-partum. Nine women (43%) were hypertensive during pregnancy. Preterm delivery was more common in Pc patients compared to controls (30% vs 6%,
p
< 0.001). There was no maternal or fetal mortality. Timing of tumor removal did not affect gestational weight or APGAR scores. There was no observed difference in hospital admissions between children affected by maternal Pc and controls.
Conclusion
Pc was commonly diagnosed after delivery and raised the risk of pre-term delivery, suggesting a need for an increased awareness of this diagnosis. However, reassuringly, there was no fetal or maternal mortality or any observed long-term impact on the children.
Objective The burden of symptoms and treatment in patients with primary aldosteronism (PA), as well as the patients’ experience of the health care is sparsely studied. The objectives of this study ...were to describe symptoms considered to be the most troublesome by patients with PA, and to explore health related worries and expectations following treatment. Methods This was an explorative qualitative study where 25 patients with PA, diagnosed between 2017 and 2019, were included; 13 patients who had undergone adrenalectomy and 12 who were receiving medical treatment. Data was collected during six group interviews and analyzed using a thematic approach. Results Three main themes were identified: 1) Distress of the past, where the most important issues were struggle to receive a correct diagnosis, impaired well-being and the consumption of a large number of tablets, 2) Satisfaction after receiving a correct diagnosis, both in patients with unilateral and bilateral disease, but also dissatisfaction with lack of information about the disease, and 3) Future concerns, where worries about the long-term effects of PA on health in general dominated. Conclusions Our findings illustrate several important issues related to PA where improvements in patient care are needed, including actions aiming at shortening the long diagnostic delay, a thorough information to the patients about the disease is of great importance, and that all patients with PA, regardless of treatment, would benefit from a structured long-term follow-up.
The burden of symptoms and treatment in patients with primary aldosteronism (PA), as well as the patients' experience of the health care is sparsely studied. The objectives of this study were to ...describe symptoms considered to be the most troublesome by patients with PA, and to explore health related worries and expectations following treatment.
This was an explorative qualitative study where 25 patients with PA, diagnosed between 2017 and 2019, were included; 13 patients who had undergone adrenalectomy and 12 who were receiving medical treatment. Data was collected during six group interviews and analyzed using a thematic approach.
Three main themes were identified: 1) Distress of the past, where the most important issues were struggle to receive a correct diagnosis, impaired well-being and the consumption of a large number of tablets, 2) Satisfaction after receiving a correct diagnosis, both in patients with unilateral and bilateral disease, but also dissatisfaction with lack of information about the disease, and 3) Future concerns, where worries about the long-term effects of PA on health in general dominated.
Our findings illustrate several important issues related to PA where improvements in patient care are needed, including actions aiming at shortening the long diagnostic delay, a thorough information to the patients about the disease is of great importance, and that all patients with PA, regardless of treatment, would benefit from a structured long-term follow-up.
Abstract
Context
Aggressive pituitary tumors (APTs) are characterized by unusually rapid growth and lack of response to standard treatment. About 1% to 2% develop metastases being classified as ...pituitary carcinomas (PCs). For unknown reasons, the corticotroph tumors are overrepresented among APTs and PCs. Mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, regulating chromatin remodeling and telomere maintenance, have been implicated in the development of several cancer types, including neuroendocrine tumors.
Objective
To study ATRX protein expression and mutational status of the ATRX gene in APTs and PCs.
Design
We investigated ATRX protein expression by using immunohistochemistry in 30 APTs and 18 PCs, mostly of Pit-1 and T-Pit cell lineage. In tumors lacking ATRX immunolabeling, mutational status of the ATRX gene was explored.
Results
Nine of the 48 tumors (19%) demonstrated lack of ATRX immunolabelling with a higher proportion in patients with PCs (5/18; 28%) than in those with APTs (4/30;13%). Lack of ATRX was most common in the corticotroph tumors, 7/22 (32%), versus tumors of the Pit-1 lineage, 2/24 (8%). Loss-of-function ATRX mutations were found in all 9 ATRX immunonegative cases: nonsense mutations (n = 4), frameshift deletions (n = 4), and large deletions affecting 22-28 of the 36 exons (n = 3). More than 1 ATRX gene defect was identified in 2 PCs.
Conclusion
ATRX mutations occur in a subset of APTs and are more common in corticotroph tumors. The findings provide a rationale for performing ATRX immunohistochemistry to identify patients at risk of developing aggressive and potentially metastatic pituitary tumors.
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