211 results on '"Henrik Falhammar"'
Search Results
2. Rare benign adrenal lesions
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Prerna Dogra, Anders Sundin, C Christofer Juhlin, Jan Calissendorff, Henrik Falhammar, and Irina Bancos
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Endocrinology ,Endocrinology, Diabetes and Metabolism ,General Medicine - Abstract
While most benign lesions of the adrenal glands represent either an adrenocortical adenoma or a myelolipoma, the advent and frequent use of high-resolution radiological investigations have led to relatively increased incidental discovery of rare adrenal lesions, specifically benign adrenal cysts, adrenal ganglioneuromas, adrenal schwannomas, adrenal hemorrhage, and adrenal calcifications. Radiological characteristics of the different rare benign adrenal lesions could vary from distinct to indeterminate. Though typically nonfunctional, these rare lesions require evaluation for adrenal hormone excess, as they may phenotypically appear similar to pheochromocytoma or adrenocortical carcinoma and could sometimes be associated with or conceal an underlying functional adrenal tumor. In this review, we discuss the various rare benign adrenal lesions, emphasizing a practical perspective.
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- 2023
3. Corticosteroid-binding globulin (CBG): spatiotemporal distribution of cortisol in sepsis
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Jessica H. Lee, Emily J. Meyer, Marne A. Nenke, Henrik Falhammar, and David J. Torpy
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Endocrinology ,Endocrinology, Diabetes and Metabolism - Published
- 2023
4. Time-dependent association between omeprazole and esomeprazole and hospitalization due to hyponatremia
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Issa, Issa, Jakob, Skov, Henrik, Falhammar, Jan, Calissendorff, Jonatan D, Lindh, and Buster, Mannheimer
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Pharmacology ,Pharmacology (medical) ,General Medicine - Abstract
Purpose The aim of this study was to explore the time-course of hospitalization due to hyponatremia associated with omeprazole and esomeprazole. Methods In this register-based case–control study, we compared patients hospitalized with a main diagnosis of hyponatremia (n = 11,213) to matched controls (n = 44,801). We used multiple regression to investigate time-related associations between omeprazole and esomeprazole and hospitalization because of hyponatremia. Results The overall adjusted OR (aOR) between proton pump inhibitor (PPI) exposure, regardless of treatment duration and hospitalization with a main diagnosis of hyponatremia, was 1.23 (95% confidence interval CI 1.15–1.32). Exposure to PPIs was associated with a prompt increase in risk of hospitalization for hyponatremia from the first week (aOR 6.87; 95% CI 4.83–9.86). The risk then gradually declined, reaching an aOR of 1.64 (0.96–2.75) the fifth week. The aOR of ongoing PPI treatment was 1.10 (1.03–1.18). Conclusion The present study shows a marked association between omeprazole and esomeprazole and hyponatremia related to recently initiated treatment. Consequently, newly initiated PPIs should be considered a potential culprit in any patient suffering from hyponatremia. However, if the patient has had this treatment for a longer time, the PPI should be considered a less likely cause.
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- 2022
5. Long-Term Outcomes of Congenital Adrenal Hyperplasia
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Anna Nordenström, Svetlana Lajic, and Henrik Falhammar
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Endocrinology ,Adrenal Hyperplasia, Congenital ,Endocrinology, Diabetes and Metabolism ,Humans ,Steroid 21-Hydroxylase - Abstract
A plethora of negative long-term outcomes have been associated with congenital adrenal hyperplasia (CAH). The causes are multiple and involve supra-physiological gluco- and mineralocorticoid replacement, excess adrenal androgens both intrauterine and postnatal, elevated steroid precursor and adrenocorticotropic hormone levels, living with a congenital condition as well as the proximity of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene to other genes. This review aims to discuss the different long-term outcomes of CAH.
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- 2022
6. Pregnancy outcomes in women with classic and non-classic congenital adrenal hyperplasia
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Clara Minea, Matthias Auer, Marcus Quinkler, Gesine Meyer, Irina Bancos, Felix Beuschlein, Christina Bothou, Rosario Pivonello, Chiara Simeoli, Henrik Falhammar, and Nicole Reisch
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General Medicine - Published
- 2023
7. Ambulatory fludrocortisone suppression test in the diagnosis of primary aldosteronism: Safety, accuracy and cost‐effectiveness
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Ana Carasel, Jan Calissendorff, Kamila Avander, Ivan Shabo, Cristina Volpe, and Henrik Falhammar
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Endocrinology ,Fludrocortisone ,Cost-Benefit Analysis ,Endocrinology, Diabetes and Metabolism ,Hyperaldosteronism ,Hypertension ,Renin ,Humans ,Aldosterone ,Retrospective Studies - Abstract
The aims of this study were to explore if the ambulatory fludrocortisone suppression test (FST) was safe, accurate and cost-effective.The diagnosis of primary aldosteronism (PA) remains time-consuming and complex. The FST is used to confirm PA, but it is an in-patient test due to potentially serious complications such as hypokalemia. In Stockholm, FST has been performed since 2005 as an ambulatory procedure.This is a retrospective study including all patients investigated with FST in four hospitals in Stockholm, Sweden, during 2005-2019.In total, 156 cases of ambulatory FST (FSTamb) and 15 cases of in-patient FST (FSTin) were included. FSTamb and FSTin were compared regarding health costs, clinical characteristics and laboratory results.No difference was found in the outcomes of FSTamb and FSTin. No severe complications were reported in FSTamb patients. No difference was found in the median value for plasma potassium on Day 5 between the two groups. Only three patients (1.9%) in the FSTamb had to repeat the test due to incomplete intake of medications. FSTamb and FSTin were equally accurate. The cost of performing FSTamb was at least 50% lower compared with FSTin ($2400 vs. $5200 per patient). The time needed for FSTamb was 60 min of physician's time and 150 min of nurse's time which were lower than the 5 days in FSTin.Ambulatory FST is safe and accurate and can be performed with significantly less healthcare costs compared to FSTin.
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- 2022
8. Incidence, patterns, risk factors and clinical outcomes of intravenous acyclovir induced nephrotoxicity
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Abdullah M, Al-Alawi, Juhaina Salim, Al-Maqbali, Maria, Al-Adawi, Anan, Al-Jabri, and Henrik, Falhammar
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Pharmacology ,Pharmaceutical Science - Abstract
Acyclovir is approved to treat herpes simplex virus (HSV) type 1, type 2 and varicella-zoster virus. It is mainly eliminated via the kidneys, for which drug crystals accumulation might lead to nephrotoxicity. This study aimed to determine the incidence, risk factors, preventive measures, and clinical outcomes of acyclovir induced-nephrotoxicity.This is a retrospective cohort study of patients12 years of age at Sultan Qaboos University Hospital (SQUH) receiving IV acyclovir therapy between January 2016 and December 2020.Out of 191 included patients, 40 (20.1%) developed acyclovir induced-nephrotoxicity. Age (per year older: OR 1.04, 95 %CI 1.01-1.07), total duration of treatment (per day OR1.19, 95 %CI 1.06-1.33), and concomitant use of vancomycin (OR 5.96, 95 %CI 1.87-19.01) were significant independent risk factors for acyclovir induced-nephrotoxicity development. Nine patients (4.5%) died during the same hospitalization, including those three patients who required renal replacement therapy (1.5%).Frequent monitoring of kidney function for older patients with concurrent use of vancomycin and IV hydration is essential to prevent IV acyclovir induced-nephrotoxicity. Antimicrobial stewardship is a crucial method to reduce the duration of treatment with IV acyclovir as appropriate.
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- 2022
9. Adrenal crises in adolescents and young adults
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R. Louise Rushworth, Georgina L. Chrisp, Suzannah Bownes, David J. Torpy, and Henrik Falhammar
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Endocrinology ,Endocrinology, Diabetes and Metabolism - Abstract
Purpose Review the literature concerning adrenal insufficiency (AI) and adrenal crisis (AC) in adolescents and young adults. Methods Searches of PubMed identifying relevant reports up to March 2022. Results AI is rare disorder that requires lifelong glucocorticoid replacement therapy and is associated with substantial morbidity and occasional mortality among adolescents and young adults. Aetiologies in this age group are more commonly congenital, with acquired causes, resulting from tumours in the hypothalamic-pituitary area and autoimmune adrenalitis among others, increasing with age. All patients with AI are at risk of AC, which have an estimated incidence of 6 to 8 ACs/100 patient years. Prevention of ACs includes use of educational interventions to achieve competency in dose escalation and parenteral glucocorticoid administration during times of physiological stress, such as an intercurrent infection. While the incidence of AI/AC in young children and adults has been documented, there are few studies focussed on the AC occurrence in adolescents and young adults with AI. This is despite the range of developmental, psychosocial, and structural changes that can interfere with chronic disease management during this important period of growth and development. Conclusion In this review, we examine the current state of knowledge of AC epidemiology in emerging adults; examine the causes of ACs in this age group; and suggest areas for further investigation that are aimed at reducing the incidence and health impact of ACs in these patients.
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- 2022
10. Adrenal cysts: an emerging condition
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Jan Calissendorff, C. Christofer Juhlin, Anders Sundin, Irina Bancos, and Henrik Falhammar
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Endocrinology ,Endocrinology, Diabetes and Metabolism - Published
- 2023
11. Response to Letter to the Editor From Yu: 'Adrenal Medullary Hyperplasia: A Systematic Review and Meta-analysis'
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Rafal Ganni, David J Torpy, Henrik Falhammar, and R Louise Rushworth
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Endocrinology ,Endocrinology, Diabetes and Metabolism ,Biochemistry (medical) ,Clinical Biochemistry ,Biochemistry - Published
- 2023
12. Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management
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Kyriakie Sarafoglou, Deborah P Merke, Nicole Reisch, Hedi Claahsen-van der Grinten, Henrik Falhammar, and Richard J Auchus
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Endocrinology ,Endocrinology, Diabetes and Metabolism ,Biochemistry (medical) ,Clinical Biochemistry ,Biochemistry - Abstract
The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (21OHD), which in the classic (severe) form occurs in roughly 1:16 000 newborns worldwide. Lifelong treatment consists of replacing cortisol and aldosterone deficiencies, and supraphysiological dosing schedules are typically employed to simultaneously attenuate production of adrenal-derived androgens. Glucocorticoid titration in 21OHD is challenging as it must balance the consequences of androgen excess vs those from chronic high glucocorticoid exposure, which are further complicated by interindividual variability in cortisol kinetics and glucocorticoid sensitivity. Clinical assessment and biochemical parameters are both used to guide therapy, but the specific purpose and goals of each biomarker vary with age and clinical context. Here we review the approach to medication titration for children and adults with classic 21OHD, with an emphasis on how to interpret adrenal biomarker values in guiding this process. In parallel, we illustrate how an understanding of the pathophysiologic and pharmacologic principles can be used to avoid and to correct complications of this disease and consequences of its management using existing treatment options.
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- 2023
13. Adrenal Medullary Hyperplasia: A Systematic Review and Meta-analysis
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Rafal Ganni, David J Torpy, Henrik Falhammar, and R Louise Rushworth
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Endocrinology ,Endocrinology, Diabetes and Metabolism ,Biochemistry (medical) ,Clinical Biochemistry ,Biochemistry - Abstract
Context Adrenal medullary hyperplasia (AMH) is a rare, incompletely described disorder of the adrenal medulla that is associated with catecholamine excess. Objective To increase knowledge about AMH by reviewing the reported cases of this disorder. Design Systematic review and meta-analysis of the genotype/phenotype relationship in all reported cases of AMH. Setting Literature review and analysis. Patients or Other Participants All cases of AMH published to date. Main Outcome Measure(s) Characteristics of AMH cases and genotype-phenotype relationships. Results A total of 66 patients, median age of 48 years, were identified from 29 reports. More than one-half were male (n = 39, 59%). The majority had unilateral (73%, n = 48) disease; 71% (n = 47) were sporadic and 23% (n = 15) were associated with the MEN2. Most (91%, n = 60) displayed signs and symptoms of excess catecholamine secretion, particularly hypertension. Elevated catecholamine concentrations (86%, n = 57) and adrenal abnormalities on imaging were common (80%, n = 53). More than one-half (58%, n = 38) had concurrent tumors: pheochromocytoma (42%, n = 16/38); medullary thyroid cancer (24%, n = 9/38); and adrenocortical adenoma (29%, n = 11/38). Most (88%, n = 58) underwent adrenalectomy with 45/58 achieving symptom resolution. Adrenalectomy was less common in patients under 40 years and those with bilateral disease (both P < .05). Conclusion AMH may be sporadic or associated with MEN2, most have catecholamine excess and imaging abnormalities. Unilateral involvement is more common. Most reported patients have been treated with adrenalectomy, which is usually curative with regard to catecholamine hypersecretion.
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- 2023
14. Tuberculosis of Adrenal Glands—A Population-based Case-control Study
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Jonatan D Lindh, Jekaterina Patrova, R Louise Rushworth, Buster Mannheimer, and Henrik Falhammar
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Endocrinology, Diabetes and Metabolism - Abstract
Purpose Adrenal tuberculosis (ATB) can cause primary adrenal insufficiency (PAI) or may be misdiagnosed as nonfunctional adrenal tumors (NFATs) in patients with tuberculosis. Very little is known about its epidemiology in a modern, high-income setting. The aim was to investigate adrenal involvement and associated mortality in patients with tuberculosis. Methods By using national registers, patients with tuberculosis and adrenal lesions were compared with controls without adrenal tumors. To analyze mortality in individuals with ATB or possible adrenal affection (ie, tuberculosis and NFAT), a subgroup of controls with tuberculosis was selected. The study population was included from 2005 to 2019 and followed until death or 2020. In mortality adjustments were made for age and sex. Results Eight patients with ATB, 23 232 patients with NFAT, and 144 124 controls were included. Among those with NFAT, we found 34 with tuberculosis and NFAT. Among controls, 129 individuals diagnosed with tuberculosis were identified. The risk of having an adrenal tumor was increased in tuberculosis (odds ratio, 1.64; 95% CI, 1.12-2.39). Of those with ATB, 7 (88%) had PAI. One patient (3%) with tuberculosis and NFAT and 1 (0.8%) control with tuberculosis had PAI. Compared with controls with tuberculosis, mortality was increased in patients with ATB (hazard ratio, 5.4; 95% CI, 2.2-13.2; adjusted hazard ratio, 6.2; 95% CI, 2.5-15.6), and in patients with tuberculosis and NFAT (1.3; 0.6-2.7; 2.3; 1.1-5.1). PAI was a contributing factor in 4/6 (67%) deaths in patients with ATB. Conclusions Tuberculosis with adrenal lesions was extremely rare. Most patients with ATB had PAI and mortality was increased.
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- 2023
15. Obstructive sleep apnoea and adherence to continuous positive airway therapy among Australian women
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Dimitar Sajkov, Subash S. Heraganahally, Xinlin Jing, Joy J Mingi, Henrik Falhammar, Sai Tip, Timothy Howarth, Anil Roy, and Kyi Kyi Zaw
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Adult ,Male ,medicine.medical_specialty ,medicine.medical_treatment ,030204 cardiovascular system & hematology ,Cpap adherence ,03 medical and health sciences ,0302 clinical medicine ,stomatognathic system ,Cpap therapy ,Internal medicine ,Internal Medicine ,medicine ,Humans ,030212 general & internal medicine ,Continuous positive airway pressure ,Retrospective Studies ,Sleep Apnea, Obstructive ,Continuous Positive Airway Pressure ,business.industry ,Epworth Sleepiness Scale ,Australia ,Retrospective cohort study ,medicine.disease ,Sleep in non-human animals ,nervous system diseases ,respiratory tract diseases ,Oxygen ,Hypertension ,Female ,Airway ,business ,Hypopnea - Abstract
Background Clinical characteristics of women with different obstructive sleep apnoea (OSA) severity and adherence to Continuous Positive Airway Pressure (CPAP) therapy have not been previously explored. Therefore, in this retrospective study we assessed OSA prevalence. predictors, clinical and polysomnographic (PSG) characteristics and adherence to CPAP therapy among adult Australian women. Methods All female patients who underwent a diagnostic PSG between 2014/2015 were included. CPAP adherence was assessed during the study period between 2018/2019 using multiple regression model. Results Among a total of 591 females included in this study (Aboriginal n=86), OSA was diagnosed in 458/591 (78%) patients; mild, moderate and severe OSA was present in 44%, 27% and 29% respectively. Older age, higher BMI and hypertension predicted the presence and severity of OSA. The Epworth Sleepiness Scale (ESS) score was not significantly different with [10 (5, 13)] or without [8 (5, 12)] OSA. PSG showed rapid eye movement (REM) sleep associated apnoea hypopnea index (AHI) was higher with all severity of OSA. Adherence to CPAP therapy was noted in 171 (57%) patients; 47% mild, 57% moderate and 63% with severe OSA respectively. Three multiple regression models [clinical, PSG parameters, OSA severity, combined (clinical and PSG)] showed combined model had strongest predictive value and demonstrated that higher ESS and more severe oxygen desaturation were associated with CPAP adherence irrespective of OSA severity. Conclusion Older age, higher BMI and presence of hypertension predicted the presence of OSA. REM sleep related AHI was higher. Adherence to CPAP was associated with symptomatic OSA and severe oxygen desaturation. This article is protected by copyright. All rights reserved.
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- 2022
16. Adrenal traumaexperienceat a major tertiary centre in Sweden: Clinical and radiological findings
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Henrik Falhammar, Seppo K. Koskinen, and Anna Kistner
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Sweden ,Hematoma ,Endocrinology ,Endocrinology, Diabetes and Metabolism ,Humans ,Wounds, Nonpenetrating ,Adrenal Insufficiency ,Retrospective Studies - Abstract
Information on the incidence of adrenal trauma and its association with other injuries is limited. Our objective was to study the incidence of adrenal haemorrhage, its association with other injuries, clinical parameters, and long-term outcomes.All patients treated for severe abdominal trauma (Level 1) at Karolinska University Hospital, Solna, between January 1, 2013 and December 31, 2018 were included. Patients with a radiological picture of adrenal haematoma were selected. The injury severity score (ISS) was analysed in the entire cohort. Data were collected from the electronic medical files.In total, 1.7% (n = 29/1743) was affected by adrenal trauma. Right adrenal trauma (n = 20/29;69%) was more common than left (n = 6/29;21%, p 0.01), and 10% were bilateral (n = 3/29). There was no difference in volume in right versus left adrenal trauma [(median 13 (interquartile range (IQR) (7-15) versus 8 (5-13)] ml, p = 0.30). ISS was 23.4 (17-43) in adrenal haematoma patients, higher compared with other trauma patients 16 (8-27) (n = 1714)(p 0.001). Rib fractures, pneumothorax, and liver lacerations were the three most common findings in association with adrenal trauma. The underlying cause in 48% of the cases was falling from height (≥3 m). Biochemical data demonstrated normal sodium and potassium levels while the lowest haemoglobin level was 72 g/l. At follow-up, 4 (2-6) years after the trauma, except for three patients who died as in-patients, all other persons were still living. None seemed to have adrenal insufficiency.Adrenal trauma is rare and does not seem to be associated with clinical features of adrenal insufficiency, even if the bleeding is bilateral.
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- 2022
17. The impact of adherence and therapy regimens on quality of life in patients with congenital adrenal hyperplasia
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Kerstin Ekbom, Anna Strandqvist, Svetlana Lajic, Angelica Hirschberg, Henrik Falhammar, and Anna Nordenström
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Adult ,Young Adult ,Endocrinology ,Adolescent ,Adrenal Hyperplasia, Congenital ,Hydrocortisone ,Surveys and Questionnaires ,Endocrinology, Diabetes and Metabolism ,Quality of Life ,Humans ,Middle Aged ,Glucocorticoids ,Aged - Abstract
Varying outcomes regarding the quality of life (QoL) have been reported in patients with congenital adrenal hyperplasia (CAH). To assess the impact of adherence rate to medical therapy regimens on QoL in patients with CAH.Adolescents and adults aged 15-72 years with CAH due to 21-hydroxylase deficiency at Karolinska University Hospital, Stockholm, Sweden.QoL was assessed using the Addison QoL (n = 72) and RAND 36 questionnaires (n = 75). Adherence to therapy regimens was measured using the Adherence Starts with Knowledge questionnaire (ASK-12). Associations between QoL, type of glucocorticoid therapy prescribed and ASK-12 results were examined. Results were compared to reference RAND 36 data obtained from a representative sample from the general Swedish population.A good adherence rate to therapy regimens and a younger age were key factors for a better QoL in study participants with CAH. Younger patients on hydrocortisone and with good adherence had higher RAND 36 scores than older patients on prednisolone independently adherence. Participants with classic CAH (both the salt-wasting and simple virilizing form) reported higher QoL than those with nonclassic CAH. Patients with CAH, especially nonclassic, more frequently reported an impaired QoL than the general population, especially regarding limitations related to body pain, vitality and mental health.A poor adherence rate to therapy regimens, rather than type of glucocorticoid was associated with impaired QoL in adolescents and adults with CAH.
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- 2022
18. Diabetic foot ulcers – The time to act is now
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Henrik Falhammar
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General Medicine ,General Biochemistry, Genetics and Molecular Biology - Published
- 2023
19. Adrenal myelolipomas
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Jan, Calissendorff, Carl Christofer, Juhlin, Anders, Sundin, Irina, Bancos, and Henrik, Falhammar
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Male ,Adrenal Hyperplasia, Congenital ,Endocrinology, Diabetes and Metabolism ,Adrenal Gland Neoplasms ,Middle Aged ,Prognosis ,Article ,Endocrinology ,Adrenocorticotropic Hormone ,Myelolipoma ,Proto-Oncogene Proteins ,Mutation ,Internal Medicine ,Humans ,Female ,Tomography, X-Ray Computed ,Aged - Abstract
Adrenal myelolipomas are benign, lipomatous tumours with elements of myeloid cells, most of which present as adrenal incidentalomas and comprise 3·3-6·5% of all adrenal masses. Adrenal myelolipomas are usually unilateral (in 95% of cases), variable in size, most often found during midlife, and affect both sexes almost equally. On imaging, adrenal myelolipomas show pathognomonic imaging features consistent with the presence of macroscopic fat. Large adrenal myelolipomas can cause symptoms of mass effect, and can occasionally be complicated by haemorrhage. In the event of a concomitant adrenal cortical adenoma or hyperplasia, adrenal hormone excess might be detected in patients with adrenal myelolipoma. Patients with congenital adrenal hyperplasia exhibit a higher prevalence of adrenal myelolipomas than other patient groups, and are at risk of developing large and bilateral lesions. This Review discusses the pathogenesis, clinical presentation, and management of adrenal myelolipomas.
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- 2021
20. Congenital adrenal hyperplasia is a very rare cause of adrenal incidentalomas in Sweden
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Fredrik Sahlander, Sophie Bensing, and Henrik Falhammar
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adrenal tumor ,Male ,Sweden ,Adrenal Hyperplasia, Congenital ,Hydrocortisone ,adrenocorticotropic hormone ,17-alpha-Hydroxyprogesterone ,Endocrinology, Diabetes and Metabolism ,Adrenal Gland Neoplasms ,21-hydroxylase deficiency ,17-hydroxyprogesterone ,Endocrinology and Diabetes ,Adrenocorticotropic Hormone ,Endokrinologi och diabetes ,Humans ,Female ,Steroid 21-Hydroxylase ,Prospective Studies ,Aged - Abstract
BackgroundUndiagnosed congenital adrenal hyperplasia (CAH) can cause adrenal incidentalomas, but the frequency is unclear.ObjectivesThis study aimed to investigate the prevalence of CAH in a population with adrenal incidentalomas and report the clinical characterization.Material and methodsThis was a prospective study performed at a regional hospital from 2016 to 2021. Patients with adrenal incidentalomas were investigated with an adrenocorticotropic hormone (ACTH)-stimulation test in addition to hormonal workup. Serum cortisol and 17-hydroxyprogesterone (17OHP) were analyzed. Individuals with a basal or stimulated 17OHP ≥30 nmol/L were classified as suspicious non-classic CAH, and a CYP21A2-gene analysis was performed in these subjects.ResultsIn total, 320 individuals with adrenal incidentalomas were referred to the center, and of these individuals, an ACTH-stimulation test was performed in 222 (median age, 67 (24–87) years; 58.6% women; and 11.7% with bilateral lesions). None of the individuals presented a basal 17OHP ≥30 nmol/L, but there were 8 (3.6%) who did after ACTH stimulation. Four of these subjects (50%) presented bilateral lesions, and the tumor size was larger compared to that of the individuals with a stimulated 17OHP CYP21A2 variation (p.Val282Leu) was detected in one of the eight subjects with a stimulated 17OHP ≥30 nmol/L, i.e., the patient was a heterozygotic carrier. None of the eight subjects presented with cortisol insufficiency or clinical signs of hyperandrogenism.ConclusionsThe prevalence of non-classic CAH in an adrenal incidentaloma cohort was 3.6% based on stimulated 17OHP and 0% based on gene analysis. CAH should be considered in AI management in selected cases and confirmed by genetic analysis.
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- 2022
21. Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study
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Richard J, Auchus, Carine, Courtillot, Adrian, Dobs, Diala, El-Maouche, Henrik, Falhammar, Andre, Lacroix, Mallory, Farrar, Conor, O'Donoghue, Milena, Anatchkova, Katelyn, Cutts, Natalie, Taylor, Chuck, Yonan, Mark, Lamotte, and Philippe, Touraine
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Adult ,Consensus ,Adrenal Hyperplasia, Congenital ,Hydrocortisone ,Delphi Technique ,Endocrinology, Diabetes and Metabolism ,Androgens ,Humans - Abstract
BackgroundClassic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and excess androgen production. The current standard of care is glucocorticoid (GC) therapy, and sometimes mineralocorticoids, to replace endogenous cortisol deficiency; however, supraphysiologic GC doses are usually needed to reduce excess androgen production. Monitoring/titrating GC treatment remains a major challenge, and there is no agreement on assessment of treatment adequacy. This study surveyed expert opinions on current treatment practices and unmet needs in adults with classic CAH.MethodsA modified two-round Delphi process with adult endocrinologists was conducted via online questionnaire. Survey questions were organized into three categories: practice characteristics/CAH experience, GC management, and unmet needs/complications. Anonymized aggregate data from Round 1 were provided as feedback for Round 2. Responses from both rounds were analyzed using descriptive statistics. Consensus was defined a priori as: full consensus (100%, n=9/9); near consensus (78% to ResultsThe same nine panelists participated in both survey rounds; five (56%) were based in North America and four (44%) in Europe. Most panelists (78%) used hydrocortisone in the majority of patients, but two (22%) preferred prednisone/prednisolone. Panelists agreed (89%) that adequate control is best evaluated using a balance of clinical presentation and androgen/precursor laboratory values; no consensus was reached on optimal timing of collecting samples for androgen testing or laboratory values indicating good control. Despite lack of consensus on many aspects of CAH management, panelists agreed on the importance of many disease- and GC-related complications, and that there is a large unmet need for new treatments. With currently available treatments, panelists reported that 46% of classic CAH patients did not have optimized androgen levels, regardless of GC dose.ConclusionsThe limited areas of consensus obtained in this study reflect the variability in treatment practices for adults with classic CAH, even among clinicians with expertise in treating this population. However, all panelists agreed on the need for new treatments for classic CAH and the importance of many disease- and GC-related complications, which are difficult to manage with currently available treatments.
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- 2022
22. Hypoglycemia after exposure of diclofenac medication
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Henrik Falhammar, Ove Törring, Martin Larsson, and David Nathanson
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Endocrinology ,Endocrinology, Diabetes and Metabolism - Abstract
Diclofenac is commonly used as pain relief. Hypoglycemia has rarely been reported due to aspirin and indomethacin use but not of any other nonsteroidal anti-inflammatory drugs.A 69-years old endocrinologist participated as a control in a glucagon-like peptide-1 (GLP-1) study. He decreased his plasma glucose to 1.8 mmol/L and developed full-blown hypoglycemic symptoms during an oral glucose tolerance test (OGTT). He had taken a 50 mg diclofenac tablet at 10 pm the evening before for a harmless muscle stretch in the lower back. Apart from well-controlled hypothyroidism he was healthy. During medical school he often had reactive hypoglycemia which came after intake of a carbohydrate rich but otherwise poor breakfast followed by bicycling. However, he had never experienced problems later in life after more decent meals containing slower absorbable carbohydrates. A 3-day continuous glucose monitoring (CGM) was performed three weeks after the OGTT test. A glucose value of 3.1 mmol/L was registered on the third CGM day in the afternoon after intake of 500 mg aspirin in the early morning the same day. Otherwise, all values were normal. A second OGGT where no medications apart from levothyroxine had been taken during at least a 2-week period adjacent was normal. Detailed analyses of the OGTTs showed that the GLP-1 levels before the test were higher after diclofenac exposure while the insulin levels increased after the glucose challenge which suggesting uncoupling.With this case report we would like to draw attention to that diclofenac may cause hypoglycemia.
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- 2022
23. The application of new concepts of the assessment of the thyroid state to pregnant women
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Stephen P, Fitzgerald, Nigel G, Bean, Samuel P, Fitzgerald, and Henrik, Falhammar
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Thyroid Hormones ,Thyroxine ,Pregnancy ,Endocrinology, Diabetes and Metabolism ,Pregnancy Outcome ,Thyroid Gland ,Humans ,Thyrotropin ,Female ,Pregnant Women - Abstract
Recently proposed concepts regarding the nature and assessment of the thyroid state have provided a model more consistent with empiric evidence. It now appears likely that there are no such entities as thyroid set points and individual euthyroidism. Rather than there being discrete thyroid states, peripheral organ parameters are associated with thyroid function in a continuous manner. Thyroid hormone levels and, in particular, levels of free thyroxine now appear to be superior to thyrotropin levels as indicators of the thyroid state. Complicating the assessment of the correlations of the thyroid state with pregnancy outcomes are the contribution of the placenta to maternal thyroid function, fetal thyroid development, the multiple potential pathways to any particular outcome, the likely presence of small critical periods of time, the differing genetics of fetal and maternal tissues, and the unreliability of thyroid hormone assays. Nevertheless, there is no apparent reason for there to be a change in pregnancy to the basic principles of thyroid hormone action. The relationships between mild abnormalities of the thyroid state and pregnancy outcomes and the value of treating such mild abnormalities remain uncertain and controversial. The evidence suggests that further investigation of these clinical questions might better be based on thyroid hormone, particularly free thyroxine, levels. In the investigation of borderline low thyroid states, the categories of subclinical hypothyroidism and isolated hypothyroxinemia might both be abandoned with attention being directed to low free thyroxine levels regardless of the thyroid-stimulating hormone (TSH) levels. For these changes to occur, there would ideally be improvements in the assays for free thyroxine in pregnancy. The evidence suggests that, just as in the non-pregnant situation, pregnancy guidelines based on thyrotropin levels may need revision.
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- 2022
24. Congenital adrenal hyperplasia in the Nordic countries – a potential base for long-term outcome studies
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Anna Nordenström and Henrik Falhammar
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Oncology ,Health Policy ,Internal Medicine - Published
- 2023
25. Prevalence of Nelson’s syndrome after bilateral adrenalectomy in patients with cushing’s disease: a systematic review and meta-analysis
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Oskar Ragnarsson, Jeanette Wahlberg, Sophie Bensing, Bertil Ekman, Charlotte Höybye, Eva Marie Erfurth, Daniel S Olsson, Eleni Papakokkinou, Maria Petersson, Erik Schwarcz, Per Dahlqvist, Anna Karin Åkerman, Dimitrios Chantzichristos, Hanne Krage Carlsen, Cecilia Follin, Henrik Falhammar, Katarina Berinder, Gudmundur Johannsson, David Petranek, Britt Edén Engström, Pia Burman, and Marta Piasecka
- Subjects
Adult ,medicine.medical_specialty ,Nelson's syndrome ,Endocrinology, Diabetes and Metabolism ,Disease ,Endocrinology and Diabetes ,Article ,Nelson Syndrome ,Endocrinology ,Internal medicine ,Prevalence ,medicine ,Humans ,Corticotroph adenoma ,In patient ,Pituitary ACTH Hypersecretion ,Bilateral adrenalectomy ,Cushing’ s disease ,Nelson’ s syndrome ,Nelson’s syndrome ,business.industry ,Adrenalectomy ,Cushing's disease ,Cushing’s disease ,medicine.disease ,Pituitary Gland ,Relative risk ,Meta-analysis ,Endokrinologi och diabetes ,Observational study ,business - Abstract
Purpose Bilateral adrenalectomy (BA) still plays an important role in the management of Cushing's disease (CD). Nelson’s syndrome (NS) is a severe complication of BA, but conflicting data on its prevalence and predicting factors have been reported. The aim of this study was to determine the prevalence of NS, and identify factors associated with its development. Data sources Systematic literature search in four databases. Study Selection Observational studies reporting the prevalence of NS after BA in adult patients with CD. Data extraction Data extraction and risk of bias assessment were performed by three independent investigators. Data synthesis Thirty-six studies, with a total of 1316 CD patients treated with BA, were included for the primary outcome. Pooled prevalence of NS was 26% (95% CI 22–31%), with moderate to high heterogeneity (I2 67%, P Conclusions Every fourth patient with CD treated with BA develops NS, and every fifth patient requires pituitary-specific treatment. The risk of NS may persist for up to four decades after BA. Life-long follow-up is essential for early detection and adequate treatment of NS.
- Published
- 2021
26. Physiological Linkage of Thyroid and Pituitary Sensitivities
- Author
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Nigel Bean, Rudolf Hoermann, Henrik Falhammar, and Stephen Fitzgerald
- Subjects
Thyroxine ,Thyroid Hormones ,Endocrinology ,Endocrinology, Diabetes and Metabolism ,Pituitary Gland ,Thyroid Gland ,Humans ,Thyrotropin ,Triiodothyronine - Abstract
Objectives The sensitivities of the pituitary to thyroxine feedback, and the thyroid to thyrotropin stimulation determine the free thyroxine /thyrotropin feedback loop and can be described mathematically by two curves. It is not well understood how the two curves combine in a healthy population with normal thyroid function to express the individual balance points that are observed. This study was directed at this issue testing the possibilities of random combination and directed linkage between the two curves. Methods We reverse-engineered two sets of population data, on the assumption of independent combinations of thyroid and pituitary sensitivities, to obtain estimates of the curve describing thyroid sensitivity. Sensitivity studies were performed. Results No analysis resulted in a physiologically feasible estimate of the curve describing thyroid sensitivity. There was evidence of linkage of the two curves in terms of their combination throughout the normal range. Thyroid response curves reflecting a low free thyroxine response to thyrotropin tended to be combined in individuals with thyrotropin curves reflecting a high thyrotropin response to free thyroxine, and vice versa. Conclusions Thyroid and pituitary sensitivities are linked, being combined in individuals in a non-random directed pattern. Direct mutual interaction may contribute to this linkage. This linkage precludes the derivation of the curves describing these sensitivities from population data of the free thyroxine and thyrotropin relationship and complicates their derivation by physiological experimentation. This linkage and probable interaction may also bestow evolutionary advantage by minimising inter-individual variation in free thyroxine levels and by augmenting homeostasis.
- Published
- 2022
27. Trends in hospital admissions for adrenal insufficiency in adolescents and young adults in the 21
- Author
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Georgina L, Chrisp, Maria, Quartararo, David J, Torpy, Henrik, Falhammar, and R Louise, Rushworth
- Subjects
Adult ,Male ,Young Adult ,Adolescent ,Risk Factors ,Acute Disease ,Australia ,Humans ,Female ,Glucocorticoids ,Hospitals ,Adrenal Insufficiency - Abstract
Very little is known about the epidemiology of adrenal crises (AC) and adrenal insufficiency (AI) in adolescents and young adults.Data on all admissions to Australian hospitals between 2000/1 to 2019/20 for a principal diagnosis of AI (including AC) in 10-24 year olds were extracted from a national repository. Age and sex-specific rates and age-adjusted rates were compared.Over the study, there were 3386 admissions for a principal diagnosis of AI; 24.0% (n=812) were for an AC and 50·7% (n=1718) were for secondary AI. Age-adjusted AI admissions increased from 31·70/million in 2000/1 to 54·68/million in 2019/20 (p0·0001). Age-adjusted AC admissions also increased, most notably in the second decade (from 5·80/million in 2010/11 to 15·75/million in 2019/20) (p0·00001). Average AI and AC admission rates were comparable between the sexes, but rates increased significantly in females, especially in those aged 20 to 24 years, whose AC rate in 2019/20 (39·65/million) was significantly higher than the corresponding rate in 2000/1 (3·15/million) (p0·00001). Average age-adjusted SAI admission rates were higher in males (23·92/million) than females (15·47/million) (p0·00001). However, SAI admission rates increased only among females (from 11·81/million to 22·12/million in 2019/20), with an increase in 20-24 year old females in the second decade from 5·07/million in 2010 to 20·42/million (p0·00001). Age adjusted admissions for congenital adrenal hyperplasia, primary AI (PAI) and drug-induced AI did not change significantly over the study.AC/AI admissions increased over the first two decades of this century in the emerging adult population, particularly among females who also experienced a marked increase in AC admission rates, most evident in the second decade. Although uncertain, possible explanations include: dose of glucocorticoid replacement; non-adherence to therapy; psychosocial factors; and difficulty in transition to adult services. Admissions for SAI also increased, while rates of PAI and CAH remained constant.
- Published
- 2022
28. Prevalence and incidence of diabetes among Aboriginal people in remote communities of the Northern Territory, Australia: a retrospective, longitudinal data-linkage study
- Author
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Matthew J L Hare, Yuejen Zhao, Steven Guthridge, Paul Burgess, Elizabeth L M Barr, Elna Ellis, Deborah Butler, Amy Rosser, Henrik Falhammar, and Louise J Maple-Brown
- Subjects
Adult ,Native Hawaiian or Other Pacific Islander ,Incidence ,Diabetes Mellitus ,Northern Territory ,Prevalence ,Humans ,General Medicine ,Child ,Retrospective Studies - Abstract
ObjectivesTo assess the prevalence and incidence of diabetes among Aboriginal peoples in remote communities of the Northern Territory (NT), Australia.DesignRetrospective cohort analysis of linked clinical and administrative data sets from 1 July 2012 to 30 June 2019.SettingRemote health centres using the NT Government Primary Care Information System (51 out of a total of 84 remote health centres in the NT).ParticipantsAll Aboriginal clients residing in remote communities serviced by these health centres (N=21 267).Primary outcome measuresDiabetes diagnoses were established using hospital and primary care coding, biochemistry and prescription data.ResultsDiabetes prevalence across all ages increased from 14.4% (95% CI: 13.9% to 14.9%) to 17.0% (95% CI: 16.5% to 17.5%) over 7 years. Among adults (≥20 years), the 2018/2019 diabetes prevalence was 28.6% (95% CI: 27.8% to 29.4%), being higher in Central Australia (39.5%, 95% CI: 37.8% to 41.1%) compared with the Top End region (24.2%, 95% CI: 23.3% to 25.1%, pConclusionsThe burden of diabetes in the remote Aboriginal population of the NT is among the highest in the world. Strengthened systems of care and public health prevention strategies, developed in partnership with Aboriginal communities, are needed.
- Published
- 2022
29. Prevalence of NCAH, defined by 17-hyroxyprogesterone levels after ACTH-stimulation test, in a population with adrenal incidentaloma
- Author
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Fredrik Sahlander, Sophie Bensing, and Henrik Falhammar
- Published
- 2022
30. Mortality in patients with non-functional adrenal tumors: a swedish population-based national cohort study
- Author
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Jekaterina Patrova, Buster Mannheimer, Jonatan D Lindh, and Henrik Falhammar
- Published
- 2022
31. Long-term cardiometabolic morbidity in young adults wWith classic 21-hydroxylase deficiency congenital adrenal hyperplasia
- Author
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Beatrice Righi, Ali Salma Rashid, Jillian Bryce, Jeremy Tolinson, Walter Bonfig, Federico Baronio, Eduardo C Costa, Guilherme Guaragna-Filho, Guy T'Sjoen, Martine Cools, Renata Markosyan, S S Bachega Tania A, Miranda Mirela C, Violeta Iotova, Henrik Falhammar, Filippo Ceccato, Eleni Daniel, Richard Auchus, Richard Ross, and Faisal Ahmed
- Published
- 2022
32. Outcome of COVID-19 infections in patients with adrenal insufficiency
- Author
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Hanna Nowotny, Jillian Bryce, Roberta Giordano, Federico Baronio, Irina Chifu, Martine Cools, den Akker Erica L.T. van, Henrik Falhammar, Natasha Appelman-Dijkstra, Luca Persani, Guglielmo Beccuti, Simona Glasberg, Alberto M Pereira, Husebye Eystein Sverre, Stefanie Hahner, Faisal Ahmed, and Nicole Reisch
- Published
- 2022
33. Correction: Comparison and outcomes of emergency department presentations with respiratory disorders among Australian indigenous and non-indigenous patients
- Author
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Subash S. Heraganahally, Ram H. Ghimire, Timothy Howarth, Oshini M. Kankanamalage, Didier Palmer, and Henrik Falhammar
- Subjects
Emergency Medicine - Published
- 2022
34. Time-dependent association between selective serotonin reuptake inhibitors and hospitalization due to hyponatremia
- Author
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Jakob Skov, Jonatan D. Lindh, Henrik Falhammar, Jan Calissendorff, and Buster Mannheimer
- Subjects
Adult ,Male ,medicine.medical_specialty ,Time Factors ,Adolescent ,hyponatremia ,adverse reaction ,030204 cardiovascular system & hematology ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Humans ,SSRI ,Pharmacology (medical) ,Registries ,030212 general & internal medicine ,Adverse effect ,sodium ,Depression (differential diagnoses) ,Aged ,Retrospective Studies ,Aged, 80 and over ,Sweden ,Pharmacology ,Syndrome of inappropriate antidiuretic hormone secretion ,business.industry ,nutritional and metabolic diseases ,Middle Aged ,Serotonin reuptake ,medicine.disease ,Original Papers ,Hospitalization ,Psychiatry and Mental health ,Increased risk ,Endocrinology ,Case-Control Studies ,Anxiety ,Female ,medicine.symptom ,Hyponatremia ,business ,Selective Serotonin Reuptake Inhibitors - Abstract
Background: Selective serotonin reuptake inhibitors (SSRIs) have a wide and increasing use for the treatment of depression and anxiety. Previous studies have indicated an increased risk of hyponatremia during the first months of treatment. We aimed to investigate the detailed time-course of SSRI-associated hyponatremia with a high temporal resolution, using registry data encompassing the total Swedish population. Methods: This was a population-based case control study using several national registers. Patients hospitalized with a principal diagnosis of hyponatremia ( n = 11,213) were compared with matched controls ( n = 44,801). Multivariable regression was applied to explore time-dependent associations between SSRIs and hospitalization due to hyponatremia. Results: Individuals initiating treatment with SSRIs were exposed to an immediately increased risk for hospitalization at week 1, reaching an adjusted odds ratio (aOR) (95% confidence interval) of 29 (19–46). The associations then gradually declined, reaching an aOR of 2.1 (1.0–4.2) by week 13. The aOR for individuals treated for longer than 13 weeks was 0.78 (0.71–0.85). Conclusions: This study revealed a dramatically increased risk of hyponatremia exclusively related to newly initiated treatment. Consequently, even subtle symptoms consistent with hyponatremia during the first weeks of SSRI treatment should prompt analysis of sodium levels. In patients treated with SSRIs for several months or years, other causes should primarily be sought in the event of hyponatremia.
- Published
- 2021
35. Rate of fracture in patients with glucocorticoid replacement therapy: a systematic review and meta-analysis
- Author
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Ling Li, Henrik Falhammar, and Sophie Bensing
- Subjects
education.field_of_study ,medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Population ,Osteoporosis ,030209 endocrinology & metabolism ,Odds ratio ,medicine.disease ,Primary Adrenal Insufficiency ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,030220 oncology & carcinogenesis ,Meta-analysis ,Internal medicine ,medicine ,Adrenal insufficiency ,Congenital adrenal hyperplasia ,education ,business ,Glucocorticoid ,medicine.drug - Abstract
The association between glucocorticoid replacement therapy for adrenal insufficiency (AI) and osteoporosis is unclear. Fracture is a major cause of morbidity in patients with osteoporosis. This study aims to determine if patients on glucocorticoid replacement therapy for AI have an increased rate of fractures compared to the general population. We included all studies with adult patients receiving glucocorticoid replacement therapy for either congenital adrenal hyperplasia (CAH), primary adrenal insufficiency (PAI), or secondary adrenal insufficiency (SAI). Studies without fracture data were excluded, as well as meeting abstracts. Studies with fractures but without a control group were eligible to be included in the systematic review but not in the meta-analysis. The primary outcome was the number of fractures, which was further differentiated into osteoporotic fractures. In addition, the glucocorticoid dose equivalents used were noted whenever possible. Seventeen studies were included in the systematic review. Seven were used in the meta-analysis of any fracture and six were used for osteoporotic fracture. The reported fracture rate ranged between no fracture to 60.8% in the patient group and no fracture to 43.8% in the control group. The odds ratio (OR) for any fracture was 2.71 (95%CI: 1.36–5.43, P = 0.005) and for osteoporotic fracture 2.76 (95%CI: 2.39–3.19 P
- Published
- 2021
36. Clinical outcomes in 21-hydroxylase deficiency
- Author
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Svetlana Lajic, Henrik Falhammar, and Anna Nordenström
- Subjects
Endocrinology, Diabetes and Metabolism ,Physiology ,Anastrozole ,030209 endocrinology & metabolism ,030204 cardiovascular system & hematology ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Endocrinology ,Insulin resistance ,Internal Medicine ,medicine ,Humans ,Glucocorticoids ,Dexamethasone ,Nutrition and Dietetics ,Adrenal Hyperplasia, Congenital ,biology ,business.industry ,21-Hydroxylase ,Abiraterone acetate ,medicine.disease ,Gestational diabetes ,chemistry ,biology.protein ,Female ,business ,Body mass index ,Glucocorticoid ,medicine.drug - Abstract
Purpose of review The introduction of synthetic glucocorticoids 70 years ago made survival possible in classic 21-hydroxylase deficiency (21OHD). The currently used glucocorticoid therapy may lead to unphysiological dosing with negative consequencies on health in addition to the problems that may arise due to androgen over-exposure. Recent findings Fertility in females with 21OHD seemed to be impaired, especially in the salt-wasting (SW) phenotype but when pregnancies did occur there was a higher risk for gestational diabetes and cesearean section. Increased fat mass, body mass index, insulin resistance and frequency of autoimmune disorders as well as impaired echocardiographic parameters and lower bone mineral density were found in 21OHD compared to controls. Negative effects on cognitive functions have been identified. Adrenal tumors, especially myelolipomas, were prevalent. Increased knowledge on steroid metabolism in 21OHD and urine steroid profiling may improve assessment of treatment efficacy. Nevanimibe, abiraterone acetate and anastrozole may have a place in the future management of 21OHD. Long-acting glucocorticoids may be a less favorable, especially dexamethasone. Summary The various clinical outcomes need regular monitoring. Negative consequencies are to large extent the result of the unphysiological glucocorticoid replacement. Modern management with improved follow-up and future addition of new drugs may improve outcomes.
- Published
- 2021
37. Use of medical identification jewellery in children and young adults with adrenal insufficiency in Australia
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David J. Torpy, Georgina L Chrisp, Henrik Falhammar, Maria Quartararo, and R. Louise Rushworth
- Subjects
Pediatrics ,medicine.medical_specialty ,Geographic area ,business.industry ,Endocrinology, Diabetes and Metabolism ,Adrenal crisis ,030209 endocrinology & metabolism ,Mean age ,medicine.disease ,Discontinuation ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Australian population ,030220 oncology & carcinogenesis ,Adrenal insufficiency ,medicine ,Congenital adrenal hyperplasia ,medicine.symptom ,Young adult ,business - Abstract
Patients with adrenal insufficiency (AI) are at risk of life-threatening illness. Medical jewellery is recommended for emergencies, but its uptake is unknown. This study assessed the use of medical jewellery among Australian AI patients aged 25 years and under. Data on the age, sex, region, and diagnosis of subscribers to the largest medical jewellery provider in Australia were analysed. Subscription rates were calculated using 2017 Australian population data. There were 666 patients aged 25 years and under in the database but only 358 (53.8%) had an active (up to date) subscription, corresponding to a subscription rate of 43.67/million or approximately 14.6% of the estimated patient population. The majority (n = 238, 66.5%) had primary AI; followed by secondary AI (n = 82, 22.9%); and the remaining patients (n = 38, 10.6%) could not be classified. Congenital adrenal hyperplasia (CAH) was the most frequent diagnosis (n = 153, 42.7%), corresponding to a subscription rate of 18.67/ million or 28.9% of the estimated number of patients with CAH. The mean age of subscribers was 15.9 (SD = 5.8) years. Only 18 (5%) patients were aged under 5 years. More females (n = 199, 55.9%) than males were active subscribers and subscription rates differed significantly by geographic area. Inactive (lapsed) subscriptions increased with age and were highest in the 20–25 year age group. Subscription rates were lower than recommended; increased with age; and were more common in females. Older age was associated with higher levels of lapsed subscriptions. Factors leading to low use and discontinuation in young adults should be addressed.
- Published
- 2021
38. First insights into the genetics of 21‐hydroxylase deficiency in the Roma population
- Author
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Violeta Anastasovska, Mirjana Kocova, Aleksandar Petlichkovski, and Henrik Falhammar
- Subjects
Pediatrics ,medicine.medical_specialty ,Roma ,Genotype ,Endocrinology, Diabetes and Metabolism ,Population ,030209 endocrinology & metabolism ,Disease ,Loss of heterozygosity ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Internal medicine ,medicine ,Humans ,Congenital adrenal hyperplasia ,Allele ,education ,education.field_of_study ,Adrenal Hyperplasia, Congenital ,biology ,business.industry ,Incidence (epidemiology) ,21-Hydroxylase ,medicine.disease ,030220 oncology & carcinogenesis ,Mutation ,biology.protein ,Steroid 21-Hydroxylase ,business - Abstract
Background 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder with an incidence of 1:10,000-1:20,000 and is the result of various mutations in the CYP21A2 gene. 21OHD has been described in many different populations, but it has not been studied in Roma individuals so far. The aim of the study was to analyse the genotype in Roma patients with 21OHD and the prevalence of the disease in the Roma population of North Macedonia. Methods Molecular analysis of the nine most frequent CYP21A2 mutations in all known Roma patients with CAH in North Macedonia, relatives and healthy individuals of Roma ancestry, using the PCR/ACRS method. Results Ten Roma patients with 21OHD were identified, of which nine had the salt-wasting and one had the simple virilizing form. Calculated incidence of 21OHD in the North Macedonian Roma population was 1:3375. Interestingly, 9/10 patients (90%) were homozygous for the In2G splicing mutation (293-13A/C > G). Standard therapy with hydrocortisone and fludrocortisone had been introduced according to the guidelines. In 16 healthy relatives investigated for CYP21A2 mutations, heterozygosity for the In2G mutation was detected in 13/32 (40.6%) alleles. In 100 healthy Roma individuals, none related to the analysed families, no CYP21A2 mutations were detected. Conclusion The Roma population in North Macedonia had a very high incidence of classic 21OHD. Almost all patients had the severe salt-wasting form and the In2G/In2G genotype.
- Published
- 2021
39. MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia
- Author
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Nicole Reisch, Nike M. M. L. Stikkelbroeck, Hedi L Claahsen-van der Grinten, and Henrik Falhammar
- Subjects
Male ,Hypothalamo-Hypophyseal System ,endocrine system ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,media_common.quotation_subject ,Pituitary-Adrenal System ,030209 endocrinology & metabolism ,Semen ,Fertility ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Internal medicine ,GONADAL DYSFUNCTION ,medicine ,Humans ,Congenital adrenal hyperplasia ,In patient ,Menstrual cycle ,media_common ,Endocrine disease ,Adrenal Hyperplasia, Congenital ,urogenital system ,business.industry ,Hypogonadism ,General Medicine ,medicine.disease ,030220 oncology & carcinogenesis ,Female ,business ,Hormone - Abstract
Gonadal dysfunction is an adverse outcome in patients with congenital adrenal hyperplasia (CAH), which may become apparent already during puberty. Clinical consequences of gonadal dysfunction include menstrual disturbances in females and hypogonadism and impaired fertility in males and females. In males, gonadal dysfunction can be caused by primary gonadal failure due to testicular adrenal rest tumours (TART), and by secondary gonadal failure due to poor hormonal control. In females, gonadal dysfunction can result from an overproduction of adrenal androgens including 11-oxygenated C-19 androgens and progestins, and rarely from ovarian adrenal rest tumours. In all patients with CAH, optimal hormonal control is the key for adequate gonadal function. Therefore, regular measurements of adrenal steroids and/or their metabolites should be performed. In addition, markers of the hypothalamus–pituitary–gonadal axis need to be assessed. In females, the regularity of the menstrual cycle should be evaluated. In males, regular evaluation for TART using ultrasonography is recommended from the start of puberty or even earlier when poor hormonal control is present. When TART is present, counselling on cryopreservation of semen should be offered.
- Published
- 2021
40. Bone Mass in Young Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
- Author
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Emma Domínguez Alonso, Henrik Falhammar, Tania Mayvel Espinosa Reyes, and Gisselle Leyva González
- Subjects
Adult ,Male ,Adolescent ,Hydrocortisone ,Endocrinology, Diabetes and Metabolism ,Physiology ,Young Adult ,Absorptiometry, Photon ,Endocrinology ,Congenital adrenal hyperplasia due to 21-hydroxylase deficiency ,Bone Density ,medicine ,Humans ,Congenital adrenal hyperplasia ,Femur ,Child ,Glucocorticoids ,Testosterone ,Dual-energy X-ray absorptiometry ,Bone mineral ,Lumbar Vertebrae ,Adrenal Hyperplasia, Congenital ,medicine.diagnostic_test ,business.industry ,Hyperandrogenism ,medicine.disease ,Cross-Sectional Studies ,Fludrocortisone ,Pediatrics, Perinatology and Child Health ,Female ,business ,Body mass index ,Glucocorticoid ,medicine.drug - Abstract
Background: The effects of hyperandrogenism and steroid treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) are controversial. Objectives: The objectives of this study were to characterize BMD and fractures in patients with CAH and to identify whether there is an association between alterations in BMD, nutritional status, and variables related to the disease. Methods: A cross-sectional descriptive study was conducted to explore clinical, hormonal, dairy consumption, physical activity, and BMD variables in patients with CAH due to 21-hydroxylase deficiency and controls matched by age, gender, skin color, body mass index, and Tanner scale. Results: Fifty subjects (CAH n = 25; females n = 42 [84%]) with a mean age of 15.9 ± 5.8 years were included in the study. White skin color predominated in 34 subjects (68%), mestizo in 11 (22%), and black in 5 (10%). In patients with CAH, BMD lumbar spine was decreased compared to that in controls (0.83 ± 0.23 vs. 0.98 ± 0.26 g/cm3, p = 0.004). BMD femur was also decreased in patients with CAH; however, this was not significant (0.95 ± 0.20 vs. 1.04 ± 0.24 g/cm3, p = 0.17). There was a positive relationship between age at diagnosis, age of initiation of glucocorticoid treatment, and testosterone levels with all measurements of BMD. The daily glucocorticoid dose was negatively related to BMD. No fractures were found. Conclusions: Patients with CAH had decreased BMD, especially in lumbar spine. Increased androgen exposure seemed to improve, while increased glucocorticoid dose impaired BMD.
- Published
- 2021
41. 11C-Metomidate PET/CT Detected Multiple Ectopic Adrenal Rest Tumors in a Woman With Congenital Adrenal Hyperplasia
- Author
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Pia Burman, Erik Waldenström, Ulrika Bitzén, Henrik Falhammar, and Anders Sundin
- Subjects
Adult ,Myelolipoma ,medicine.medical_specialty ,medicine.drug_class ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Clinical Biochemistry ,Water-Electrolyte Imbalance ,Androgen Excess ,Biochemistry ,Inferior vena cava ,Neoplasms, Multiple Primary ,Endocrinology ,Positron Emission Tomography Computed Tomography ,Internal medicine ,medicine ,Adrenal Rest Tumor ,Humans ,Etomidate ,Congenital adrenal hyperplasia ,Carbon Radioisotopes ,Retroperitoneal Neoplasms ,Ovarian Neoplasms ,Sweden ,Adrenal Hyperplasia, Congenital ,business.industry ,Adrenalectomy ,Biochemistry (medical) ,medicine.disease ,Androgen ,medicine.vein ,Prednisolone ,Female ,Salts ,business ,Glucocorticoid ,medicine.drug - Abstract
Context Women with congenital adrenal hyperplasia (CAH) may present with androgen excess that is difficult to control with conventional suppressive doses of glucocorticoids. Clinical management is challenging, and the woman is at great risk of developing steroid-induced complications. Patients and Methods A 32-year-old woman with salt-wasting CAH due to 21-hydroxylase deficiency underwent right-sided adrenalectomy because of a large myelolipoma. Over the years, androgens became increasingly difficult to suppress on prednisolone 5 + 0 + 2.5 mg daily, and at age 39 years the left adrenal with an enlarging myelolipoma was removed. A month later serum testosterone levels had increased from 4.1 preoperatively to 18.3 nmol/L (reference 0.2-1.8 nmol/L), and adrenocorticotropin levels from 32 to 283 pmol/L (reference Results 18FDG-PET/CT with cosyntropin stimulation showed ovarian/paraovarian hypermetabolism, suggestive of adrenal rest tumors. Further characterization with 11C-metomidate PET/CT showed uptakes localized to the ovaries/adnexa, behind the spleen, and between the right crus diaphragmaticus and inferior vena cava. Conclusion Adrenal rest tumors can give rise to high androgen levels in spite of suppressive supraphysiological glucocorticoid doses. This case illustrates, for the first time, the value of 11C-metomidate PET as a sensitive method in documenting adrenal rest tumors, currently considered rare in women with CAH.
- Published
- 2020
42. Redefinition of Successful Treatment of Patients With Hypothyroidism. Is TSH the Best Biomarker of Euthyroidism?
- Author
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Stephen P. Fitzgerald and Henrik Falhammar
- Subjects
Thyroid Hormones ,Hypothyroidism ,Endocrinology, Diabetes and Metabolism ,Humans ,Thyrotropin ,Thyroid Function Tests ,Biomarkers - Abstract
In recent years evidence has accumulated supporting a revised view of the nature of euthyroidism and the biomarkers of thyroid function. Within the normal range, variations in thyroid hormone levels are associated with variations in clinical parameters and outcomes. There are therefore no readily identified individually specific optimum levels of thyroid hormones for any individual. Levels around the middle of the normal population range may best reflect euthyroidism. These levels may have evolutionary advantages on the basis that adverse outcomes often increase with divergence from such levels, and physiological processes tend to minimise such inter-individual and intra-individual divergence. In populations of predominantly untreated individuals, levels of thyroid hormones and in particular levels of free thyroxine (FT4) correlate more often with clinical parameters than do levels of thyrotropin (TSH). Levels of thyroid hormones may therefore be regarded as the best available biomarkers of euthyroidism and dysthyroidism. It follows that ‘subclinical hypothyroidism’ (normal FT4/raised TSH levels), rather than being an accurate marker of peripheral tissue hypothyroidism is more a marker of decreased thyroid reserve and prognosis. The recent evidence suggests that treatment of hypothyroxinemia, regardless of the TSH level, and monitoring therapy using FT4 and/or triiodothyronine levels, depending on the replacement regime, may result in more successful treatment of hypothyroidism than relying on thyrotropin levels for patient selection and subsequent treatment monitoring. The equivalents of mid-range levels of thyroid hormones (especially FT4), adjusted by individual comorbidity concerns, may be rational general replacement targets. These implications of the new evidence may create opportunities for novel trials of thyroid replacement therapy.
- Published
- 2022
43. Adrenal crises in adolescents and young adults
- Author
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R Louise, Rushworth, Georgina L, Chrisp, Suzannah, Bownes, David J, Torpy, and Henrik, Falhammar
- Subjects
Young Adult ,Addison Disease ,Adolescent ,Child, Preschool ,Incidence ,Acute Disease ,Humans ,Child ,Glucocorticoids ,Adrenal Insufficiency - Abstract
Review the literature concerning adrenal insufficiency (AI) and adrenal crisis (AC) in adolescents and young adults.Searches of PubMed identifying relevant reports up to March 2022.AI is rare disorder that requires lifelong glucocorticoid replacement therapy and is associated with substantial morbidity and occasional mortality among adolescents and young adults. Aetiologies in this age group are more commonly congenital, with acquired causes, resulting from tumours in the hypothalamic-pituitary area and autoimmune adrenalitis among others, increasing with age. All patients with AI are at risk of AC, which have an estimated incidence of 6 to 8 ACs/100 patient years. Prevention of ACs includes use of educational interventions to achieve competency in dose escalation and parenteral glucocorticoid administration during times of physiological stress, such as an intercurrent infection. While the incidence of AI/AC in young children and adults has been documented, there are few studies focussed on the AC occurrence in adolescents and young adults with AI. This is despite the range of developmental, psychosocial, and structural changes that can interfere with chronic disease management during this important period of growth and development.In this review, we examine the current state of knowledge of AC epidemiology in emerging adults; examine the causes of ACs in this age group; and suggest areas for further investigation that are aimed at reducing the incidence and health impact of ACs in these patients.
- Published
- 2022
44. CAH-X Syndrome: Genetic and Clinical Profile
- Author
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Paola Concolino and Henrik Falhammar
- Subjects
Pharmacology ,Adrenal Hyperplasia, Congenital ,Mutation ,Genetics ,Molecular Medicine ,Humans ,Ehlers-Danlos Syndrome ,Tenascin ,General Medicine ,Steroid 21-Hydroxylase - Abstract
The term CAH-X was coined to describe a subset of patients with 21-hydroxylase deficiency displaying a phenotype compatible with the hypermobility type of Ehlers Danlos syndrome. The genetic defect is due to the monoallelic presence of a CYP21A2 deletion extending into the gene encoding tenascin X (TNXB), a connective tissue extracellular matrix protein. The result is a chimeric TNXA/TNXB gene causing tenascin-X haploinsufficiency. The prevalence of CAH-X was estimated to be around 14-15% in large cohorts of patients with 21-hydroxylase deficiency. However, population studies are still scarce and the clinical picture of the syndrome has yet to be fully defined. In this review, we discuss the current knowledge regarding the genetic and clinical profile of the CAH-X syndrome.
- Published
- 2022
45. Ectopic ACTH- and/or CRH-Producing Pheochromocytomas
- Author
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Oskar Ragnarsson, Patrick F Elliott, Thomas Berhane, and Henrik Falhammar
- Subjects
endocrine system ,medicine.medical_specialty ,Corticotropin-Releasing Hormone ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Adrenal Gland Neoplasms ,Context (language use) ,Pheochromocytoma ,Biochemistry ,Cushing syndrome ,Endocrinology ,Adrenocorticotropic Hormone ,Interquartile range ,Diabetes mellitus ,Internal medicine ,medicine ,Humans ,business.industry ,Biochemistry (medical) ,Prognosis ,medicine.disease ,Hypokalemia ,Histopathology ,medicine.symptom ,Complication ,business ,Biomarkers ,hormones, hormone substitutes, and hormone antagonists - 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.
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- 2020
46. Riedel Thyroiditis
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Aakansha Zala, Thomas Berhane, C Christofer Juhlin, Jan Calissendorff, and Henrik Falhammar
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Adult ,Aged, 80 and over ,Male ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Biochemistry (medical) ,Clinical Biochemistry ,Thyroiditis, Autoimmune ,030209 endocrinology & metabolism ,Middle Aged ,Biochemistry ,Diagnosis, Differential ,Young Adult ,03 medical and health sciences ,Rare Diseases ,0302 clinical medicine ,Endocrinology ,030220 oncology & carcinogenesis ,Humans ,Female ,Child ,Aged - Abstract
Context Riedel thyroiditis (RT) is a rare inflammatory autoimmune disease that is often a clinically diagnostic dilemma because of its insidious presentation and nonspecific symptoms. Objective The aim of the present systematic review and meta-analysis is to clarify the presentation, management, and outcomes of RT. Study Selection A systematic search of PubMed/MEDLINE and Web of Science was conducted to identify relevant reports published up to September 2019. Data Extraction First author, country, patient sex, ethnicity, presentation, biochemical status, duration of symptoms, histology, treatment, follow-up duration, and short- and long-term outcomes. Data Synthesis Data from 212 RT patients were retrieved. The mean age was 47 years with a predominantly female population (81%). Neck swelling (89%), dyspnea (50%), and neck pain (41%) were the most common presenting symptoms. Inflammatory markers were elevated in 70% to 97% and thyroid antibody positivity was present in less than 50%. Up to 82% underwent surgical intervention, with the most common being total thyroidectomy in 34% of individuals. Glucocorticoids were used in 70% of individuals with median duration 3 months. Prognosis was reasonable with 90% having resolution or improvement of symptoms. Conclusions This analysis is the largest and most comprehensive to date of RT and provides clinicians with vital information on the common presentation features that may alert to the diagnosis and highlight management options.
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- 2020
47. Adrenal crises in older patients
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Ruth L Rushworth, Henrik Falhammar, and David J. Torpy
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Pediatrics ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Population ,030209 endocrinology & metabolism ,Global Health ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Age groups ,Older patients ,Risk Factors ,Adrenal Glands ,Internal Medicine ,medicine ,Global health ,Adrenal insufficiency ,Humans ,In patient ,030212 general & internal medicine ,education ,Aged ,education.field_of_study ,business.industry ,Incidence ,Incidence (epidemiology) ,Adrenal crisis ,medicine.disease ,Hospitalization ,medicine.symptom ,business ,Adrenal Insufficiency - Abstract
Adrenal crises are severe manifestations of adrenal insufficiency that result in hospital admission and incur a risk of cardiovascular events, acute renal injury, and death. Evidence from population-based studies indicate that adults older than 60 years have the highest adrenal insufficiency incidence, contribute to the highest number of adrenal crises, and have the highest age-specific incidence of adrenal crisis, which doubles between the age groups of 60-69 years and 80 years or older. Older patients might be more susceptible to adrenal crises because of a higher prevalence of comorbidities and a consequently higher risk of acute illness. This susceptibility might be compounded by shortfalls in the implementation of prevention strategies for adrenal crisis, because of individual and social factors that increase with age. Although little research has focused on adrenal crisis prevention in older patients, it seems logical that a timely diagnosis of adrenal insufficiency and the use of consensus driven adrenal crisis prevention and attenuation strategies might reduce adrenal crises in patients older than 60 years old.
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- 2020
48. Associations Between Antihypertensive Medications and Severe Hyponatremia: A Swedish Population–Based Case–Control Study
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Jakob Skov, Jan Calissendorff, Henrik Falhammar, Buster Mannheimer, Jonatan D. Lindh, and David Nathanson
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Drug ,medicine.medical_specialty ,hyponatremia ,Endocrinology, Diabetes and Metabolism ,media_common.quotation_subject ,Clinical Biochemistry ,Population ,adverse reaction ,030204 cardiovascular system & hematology ,Logistic regression ,Biochemistry ,03 medical and health sciences ,angiotensin converting enzyme inhibitors ,0302 clinical medicine ,Endocrinology ,Internal medicine ,Medicine ,cardiovascular diseases ,030212 general & internal medicine ,Adverse effect ,education ,Clinical Research Articles ,beta-receptor blockers ,media_common ,calcium channel blockers ,education.field_of_study ,angiotensin II receptor blockers ,business.industry ,Biochemistry (medical) ,SIADH ,Case-control study ,Odds ratio ,medicine.disease ,Confidence interval ,business ,Hyponatremia ,AcademicSubjects/MED00250 ,hospitalization - Abstract
BackgroundCalcium channel blockers (CCBs), beta-receptor blockers (BBs), angiotensin-converting enzyme inhibitors (ACEIs), and angiotensin II receptor blockers (ARBs) have occasionally been reported to cause severe hyponatremia. The aim was to explore the association between CCBs, BBs, ACEIs, and ARBs and hospitalization due to hyponatremia.MethodsPatients hospitalized with a principal diagnosis of hyponatremia (n = 11 213) were compared with matched controls (n = 44 801). Linkage of national population-based registers was used to acquire data. Multivariable logistic regression adjusting for co-medications, diseases, previous hospitalizations, and socioeconomic factors was used to explore the association between hospitalization for severe hyponatremia and the use of different CCBs, BBs, ACEIs, and ARBs. Furthermore, newly initiated (≤90 days) and ongoing use were examined separately.ResultsAdjusted odds ratios (aORs) (95% confidence interval) for the investigated 4 drug classes ranged from 0.86 (0.81-0.92) for CCBs to 1.15 (1.07-1.23) for ARBs. For newly initiated drugs, aORs spanned from 1.64 (1.35-1.98) for CCBs to 2.24 (1.87-2.68) for ACEIs. In contrast, the corresponding associations for ongoing therapy were not elevated, ranging from 0.81 (0.75-0.86) for CCBs to 1.08 (1.00-1.16) for ARBs. In the CCBs subgroups, aOR for newly initiated vascular CCBs was 1.95 (1.62-2.34) whereas aOR for ongoing treatment was 0.82 (0.77-0.88).ConclusionsFor newly initiated CCBs, BBs, ACEIs, and ARBs, the risk of hospitalization due to hyponatremia was moderately elevated. In contrast, there was no evidence that ongoing treatment with investigated antihypertensive drugs increased the risk for hospitalization due to hyponatremia.
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- 2020
49. Lipoadenoma of the Parathyroid Gland: Characterization of an Institutional Series Spanning 28 Years
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Jan Zedenius, C. Christofer Juhlin, Henrik Falhammar, Anders Höög, and Inga-Lena Nilsson
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Adenoma ,Adult ,Male ,medicine.medical_specialty ,Parathyroid ,Future studies ,Lipoadenoma ,Endocrinology, Diabetes and Metabolism ,Adipose tissue ,030209 endocrinology & metabolism ,Gastroenterology ,Article ,Pathology and Forensic Medicine ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Internal medicine ,Tumor Weight ,medicine ,Humans ,Case series ,Aged ,Aged, 80 and over ,Hyperparathyroidism ,business.industry ,General Medicine ,Middle Aged ,medicine.disease ,Parathyroid Neoplasms ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Female ,Parathyroid gland ,Lipoma ,business ,Body mass index ,Primary hyperparathyroidism - Abstract
Parathyroid lipoadenomas (PLAs) are rare tumors, and case descriptions are limited, 50% fat on histologic examination with preoperative evidence of primary hyperparathyroidism (PHPT). A total of 8 bona fide PLA cases and 2 equivocal PLAs (close to 50% fat) were included. As approximately 4000 conventional parathyroid adenomas were diagnosed at our department during the same time interval, the prevalence of PLA was 0.20%. PLA patients were predominately female (63%) and presented with classical PHPT-related symptoms. Majority of cases were successfully located preoperatively and had an average tumor weight of 445 mg. Histologically, all PLAs consisted of > 50% mature adipose tissue, except a single case with brown fat. Of note, PLA patients exhibited a body mass index in line with PHPT patients in general, but a relatively high, near-significant prevalence of arterial hypertension was observed when compared to tumors with less fat (P = 0.0584). Future studies on this finding might be warranted. To summarize, we present one of the largest institutional PLA case series to date, and conclude that PLAs are rare, sporadic tumors mirroring many clinical aspects of conventional adenomas—with a potential coupling to hypertension worthy of follow-up studies. Electronic supplementary material The online version of this article (10.1007/s12022-020-09616-3) contains supplementary material, which is available to authorized users.
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- 2020
50. Bone mineral density and fractures in congenital adrenal hyperplasia: Findings from the dsd‐LIFE study
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Robert Roehle, Marcus Quinkler, Henrik Falhammar, Gabriel Riehl, Nicole Reisch, and Hedi Claahsen van der Grinten
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Adult ,Male ,musculoskeletal diseases ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,Fractures, Bone ,03 medical and health sciences ,Absorptiometry, Photon ,0302 clinical medicine ,Endocrinology ,Sex hormone-binding globulin ,Bone Density ,Internal medicine ,medicine ,Humans ,Congenital adrenal hyperplasia ,Glucocorticoids ,Testosterone ,Dual-energy X-ray absorptiometry ,Hydrocortisone ,Bone mineral ,Lumbar Vertebrae ,Adrenal Hyperplasia, Congenital ,biology ,medicine.diagnostic_test ,Trochanter ,business.industry ,Infant, Newborn ,medicine.disease ,030220 oncology & carcinogenesis ,biology.protein ,Prednisolone ,Female ,business ,medicine.drug - Abstract
BACKGROUND In patients with congenital adrenal hyperplasia (CAH) type and doses of glucocorticoids used as well as sex hormone secretion during puberty have important actions on bone mineral density (BMD) in adulthood. AIM To evaluate BMD in adult CAH patients depending on current glucocorticoid therapy and on androgen levels in adulthood and at age 16 years. METHODS We included 244 CAH patients from the dsd-LIFE cohort (women n = 147, men n = 97; salt-wasting n = 148, simple-virilizing n = 71, nonclassical n = 25) in which BMD and bloods were available. Clinical and hormonal data at age 16years were retrieved from patients' files. RESULTS Simple-virilizing women showed lower BMD compared to salt-wasting women at trochanter (0.65 ± 0.12 vs 0.75 ± 0.15 g/cm2 ; P
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- 2020
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