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- Dean, B, et al.
(författare)
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P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships
- 2020
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Ingår i: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 105:3, s. E43-E54
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Forskningsöversikt (övrigt vetenskapligt/konstnärligt)abstract
- ContextP450 oxidoreductase deficiency (PORD) is a rare genetic disorder that is associated with significant morbidity. However there has been limited analysis of reported PORD cases.ObjectiveTo determine, based on the cohort of reported PORD cases, genotype-phenotype relationships for skeletal malformations, maternal virilisation in pregnancy, adrenal insufficiency, and disorders of sexual development (DSD).Data SourcesPubMed and Web of Science from January 2004 to February 2018.Study SelectionPublished case reports/series of patients with PORD. Eligible patients were unique, had biallelic mutations, and their clinical features were reported.Data ExtractionPatient data were manually extracted from the text of case reports/series. A malformation score, representing the severity of skeletal malformations, was calculated for each patient.Data SynthesisOf the 211 patients published in the literature, 90 were eligible for inclusion. More than 60 unique mutations were identified in this cohort. Four groups of mutations were identified, through regression modeling, as having significantly different skeletal malformation scores. Maternal virilization in pregnancy, reported for 21% of patients, was most common for R457H mutations. Adrenal insufficiency occurred for the majority of patients (78%) and was typically mild, with homozygous R457H mutations being the least deficient. DSD affected most patients (72%), but were less common for males (46XY) with homozygous R457H mutations.ConclusionsPORD is a complex disorder with many possible mutations affecting a large number of enzymes. By analyzing the cohort of reported PORD cases, this study identified clear relationships between genotype and several important phenotypic features.
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| 2. |
- Elliott, P. F., et al.
(författare)
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Ectopic ACTH- and/or CRH-Producing Pheochromocytomas
- 2021
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Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2, s. 598-608
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Tidskriftsartikel (refereegranskat)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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| 3. |
- Falhammar, H, et al.
(författare)
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Associations Between Antihypertensive Medications and Severe Hyponatremia: A Swedish Population-Based Case-Control Study
- 2020
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Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 105:10
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Tidskriftsartikel (refereegranskat)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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| 5. |
- Falhammar, H, et al.
(författare)
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Fractures and Bone Mineral Density in Adult Women with 21-Hydroxylase Deficiency.
- 2007
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Ingår i: J Endocrinol Metab. - : The Endocrine Society. - 0021-972X .- 1945-7197.
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Tidskriftsartikel (refereegranskat)abstract
- Context: Patients with classic congenital adrenal hyperplasia (CAH) receive lifelong, often supraphysiological, glucocorticoid therapy. Pharmacologic doses of glucocorticoids are an established risk factor for osteoporosis. Objectives: To evaluate bone mineral density (BMD), fracture prevalence and markers of bone metabolism in adult females with CAH. Design: This was a cross-sectional observational study. Setting: Tertiary care referral centers. Participants: We studied 61 women, aged 18-63 years, with genetically verified CAH due to 21-hydroxylase deficiency. They were patients with salt-wasting (n = 27), simple virilising (n = 28) and non-classic 21-hydroxylase deficiency (n = 6). Sixty-one age-matched women were controls. Main outcome measures: History of fractures was recorded. Total body, lumbar spine and femoral neck BMD were measured by dual-energy X-ray absorptiometry. The WHO criteria for osteopenia and osteoporosis were used. Serum marker of bone resorption, beta-C telopeptide (CTX) was studied. Results: The mean glucocorticoid dose in hydrocortisone equivalents was 16.9 +/- 0.9 mg/m(2). Patients had lower BMD than controls at all measured sites (P < 0.001). In patients < 30 years old 48% were osteopenic vs 12% in controls (P < 0.009). In patients >/= 30 years old 73% were osteopenic or osteoporotic vs 21% in controls (P < 0.001). BMD was similar in the two classic forms and had no obvious relationship to genotypes. CTX was decreased in older patients. More fractures were reported in patients than controls (P < 0.001). The number of vertebrae and wrist fractures almost reached significance (P = 0.058). Conclusion: Women with CAH have low BMD and increased fracture risk. BMD should be monitored, adequate prophylaxis and treatment instituted, and glucocorticoid doses optimized from puberty.
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| 9. |
- Hayes, AG, et al.
(författare)
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Approach to the patient: reninoma
- 2023
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Ingår i: The Journal of clinical endocrinology and metabolism. - 1945-7197.
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Tidskriftsartikel (refereegranskat)
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| 10. |
- Hayes, AG, et al.
(författare)
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Approach to the Patient: Reninoma
- 2024
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Ingår i: The Journal of clinical endocrinology and metabolism. - 1945-7197. ; 109:2, s. e809-e816
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Tidskriftsartikel (refereegranskat)
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