The Experts below are selected from a list of 225 Experts worldwide ranked by ideXlab platform
Jadwiga Furmaniak - One of the best experts on this subject based on the ideXlab platform.
-
autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome Addison s Disease and premature ovarian failure
The Journal of Clinical Endocrinology and Metabolism, 1996Co-Authors: Shu Chen, Joanna Sawicka, Corrado Betterle, Michael Powell, Louise Prentice, M Volpato, Rees B Smith, Jadwiga FurmaniakAbstract:Autoantibodies to steroidogenic enzymes, steroid 17 alpha-hydroxylase (17 alpha-OH), cytochrome P450 side-chain cleavage enzyme (P450scc), and steroid 21-hydroxylase (21-OH), were measured using specific and sensitive immunoprecipitation assays (IPAs) in patients with various forms of autoimmune adrenal Disease. Autoantibodies to 17 alpha-OH were detected in 6 of 11 (55%) patients with autoimmune polyglandular syndrome (APS) type I, 8 of 24 (33%) patients with APS type II, 11 of 56 (20%) patients with adrenal cortex antibody (ACA; measured by immunofluorescence)-positive patients without Addison's Disease, and only 3 of 64 (5%) patients with Addison's Disease. Autoantibodies to P450scc were found at a prevalence similar to those to 17 alpha-OH: in 5 of 11 (45%) APS type I patients, 10 of 24 (42%) APS type II patients, 11 of 56 (20%) ACA-positive patients without Addison's Disease, and only 6 of 64 (9%) patients of the Addison Disease group. Autoantibodies to 21-OH were found in a majority of patients with...
-
autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome Addison s Disease and premature ovarian failure
The Journal of Clinical Endocrinology and Metabolism, 1996Co-Authors: Shu Chen, Joanna Sawicka, Corrado Betterle, Michael Powell, Louise Prentice, M Volpato, Rees B Smith, Jadwiga FurmaniakAbstract:Autoantibodies to steroidogenic enzymes, steroid 17 alpha-hydroxylase (17 alpha-OH), cytochrome P450 side-chain cleavage enzyme (P450scc), and steroid 21-hydroxylase (21-OH), were measured using specific and sensitive immunoprecipitation assays (IPAs) in patients with various forms of autoimmune adrenal Disease. Autoantibodies to 17 alpha-OH were detected in 6 of 11 (55%) patients with autoimmune polyglandular syndrome (APS) type I, 8 of 24 (33%) patients with APS type II, 11 of 56 (20%) patients with adrenal cortex antibody (ACA; measured by immunofluorescence)-positive patients without Addison's Disease, and only 3 of 64 (5%) patients with Addison's Disease. Autoantibodies to P450scc were found at a prevalence similar to those to 17 alpha-OH: in 5 of 11 (45%) APS type I patients, 10 of 24 (42%) APS type II patients, 11 of 56 (20%) ACA-positive patients without Addison's Disease, and only 6 of 64 (9%) patients of the Addison Disease group. Autoantibodies to 21-OH were found in a majority of patients with APS type I (7 of 11;64%), APS type II (23 of 24; 96%), Addison's Disease (41 of 64; 64%), and ACA-positive patients without Addison's Disease (48 of 56; 86%). All sera that were positive for 17 alpha-OH or P450scc were also positive for 21-OH autoantibodies, except in 1 case. There was good agreement between the presence of ACA measured by immunofluorescence and 21-OH antibodies measured by IPA in all patient groups studied, and this indicates that 21-OH is a major autoantigen in adrenal autoimmune Disease regardless of whether the Disease presents as isolated Addison's Disease or APS type I or type II. Autoantibodies to 17 alpha-OH and P450scc appeared to be the major components of the steroid-producing cell antibodies measured by immunofluorescence. No autoantibodies to 21-OH, 17 alpha-OH, or P450scc were detected in 17 sera from patients with premature ovarian failure without evidence of adrenal autoimmunity (as judged by immunofluorescence studies), except for 1 serum in which low levels of 17 alpha-OH antibodies were found. Overall, our studies indicate that 35S-labeled 17 alpha-OH, P450scc, and 21-OH can be used successfully in IPAs for their respective autoantibodies. Assays such as these may well be valuable in the immunological assessment of patients at risk for or suspected of adrenal autoimmunity.
Shu Chen - One of the best experts on this subject based on the ideXlab platform.
-
autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome Addison s Disease and premature ovarian failure
The Journal of Clinical Endocrinology and Metabolism, 1996Co-Authors: Shu Chen, Joanna Sawicka, Corrado Betterle, Michael Powell, Louise Prentice, M Volpato, Rees B Smith, Jadwiga FurmaniakAbstract:Autoantibodies to steroidogenic enzymes, steroid 17 alpha-hydroxylase (17 alpha-OH), cytochrome P450 side-chain cleavage enzyme (P450scc), and steroid 21-hydroxylase (21-OH), were measured using specific and sensitive immunoprecipitation assays (IPAs) in patients with various forms of autoimmune adrenal Disease. Autoantibodies to 17 alpha-OH were detected in 6 of 11 (55%) patients with autoimmune polyglandular syndrome (APS) type I, 8 of 24 (33%) patients with APS type II, 11 of 56 (20%) patients with adrenal cortex antibody (ACA; measured by immunofluorescence)-positive patients without Addison's Disease, and only 3 of 64 (5%) patients with Addison's Disease. Autoantibodies to P450scc were found at a prevalence similar to those to 17 alpha-OH: in 5 of 11 (45%) APS type I patients, 10 of 24 (42%) APS type II patients, 11 of 56 (20%) ACA-positive patients without Addison's Disease, and only 6 of 64 (9%) patients of the Addison Disease group. Autoantibodies to 21-OH were found in a majority of patients with...
-
autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome Addison s Disease and premature ovarian failure
The Journal of Clinical Endocrinology and Metabolism, 1996Co-Authors: Shu Chen, Joanna Sawicka, Corrado Betterle, Michael Powell, Louise Prentice, M Volpato, Rees B Smith, Jadwiga FurmaniakAbstract:Autoantibodies to steroidogenic enzymes, steroid 17 alpha-hydroxylase (17 alpha-OH), cytochrome P450 side-chain cleavage enzyme (P450scc), and steroid 21-hydroxylase (21-OH), were measured using specific and sensitive immunoprecipitation assays (IPAs) in patients with various forms of autoimmune adrenal Disease. Autoantibodies to 17 alpha-OH were detected in 6 of 11 (55%) patients with autoimmune polyglandular syndrome (APS) type I, 8 of 24 (33%) patients with APS type II, 11 of 56 (20%) patients with adrenal cortex antibody (ACA; measured by immunofluorescence)-positive patients without Addison's Disease, and only 3 of 64 (5%) patients with Addison's Disease. Autoantibodies to P450scc were found at a prevalence similar to those to 17 alpha-OH: in 5 of 11 (45%) APS type I patients, 10 of 24 (42%) APS type II patients, 11 of 56 (20%) ACA-positive patients without Addison's Disease, and only 6 of 64 (9%) patients of the Addison Disease group. Autoantibodies to 21-OH were found in a majority of patients with APS type I (7 of 11;64%), APS type II (23 of 24; 96%), Addison's Disease (41 of 64; 64%), and ACA-positive patients without Addison's Disease (48 of 56; 86%). All sera that were positive for 17 alpha-OH or P450scc were also positive for 21-OH autoantibodies, except in 1 case. There was good agreement between the presence of ACA measured by immunofluorescence and 21-OH antibodies measured by IPA in all patient groups studied, and this indicates that 21-OH is a major autoantigen in adrenal autoimmune Disease regardless of whether the Disease presents as isolated Addison's Disease or APS type I or type II. Autoantibodies to 17 alpha-OH and P450scc appeared to be the major components of the steroid-producing cell antibodies measured by immunofluorescence. No autoantibodies to 21-OH, 17 alpha-OH, or P450scc were detected in 17 sera from patients with premature ovarian failure without evidence of adrenal autoimmunity (as judged by immunofluorescence studies), except for 1 serum in which low levels of 17 alpha-OH antibodies were found. Overall, our studies indicate that 35S-labeled 17 alpha-OH, P450scc, and 21-OH can be used successfully in IPAs for their respective autoantibodies. Assays such as these may well be valuable in the immunological assessment of patients at risk for or suspected of adrenal autoimmunity.
Annamaria De Bellis - One of the best experts on this subject based on the ideXlab platform.
-
steroid cell autoantibodies are preferentially expressed in women with premature ovarian failure who have adrenal autoimmunity
Fertility and Sterility, 2002Co-Authors: Alberto Falorni, Stefano Laureti, Paola Candeloro, Silvia Perrino, Concetta Coronella, Antonio Bizzarro, Antonio Bellastella, F Santeusanio, Annamaria De BellisAbstract:Abstract Objective: To determine the prevalence of steroid-cell autoantibodies, 3β-hydroxysteroid dehydrogenase (3β-HSD) antibodies, 17α-hydroxylase (17α-OH) antibodies, and P450 side-chain cleavage antibodies in premature ovarian failure. Design: Cross-sectional, observational study. Setting: Academic research hospitals. Patient(s): Eighty-one women with premature ovarian failure, 20 women with Addison Disease not associated with premature ovarian failure, 42 women with type 1 diabetes mellitus, and 90 healthy women. Main Outcome Measure(s): Serum levels of steroid-cell autoantibodies, 17α-OH antibodies, P450 side-chain cleavage antibodies, and 3β-HSD antibodies. Result(s): Steroid-cell autoantibodies were present in none of 57 women with isolated premature ovarian failure or premature ovarian failure plus nonadrenal autoimmune Disease and in 21 of 24 (87%) women with Addison Disease-related premature ovarian failure. 17α-Hydroxylase antibodies and P450 side-chain cleavage antibodies were significantly more frequent in women positive for adrenal autoantibodies than in those negative for adrenal autoantibodies (50% vs. 0% and 71% vs. 2%, respectively). The presence of 17α-OH antibodies or P450 side-chain cleavage antibodies was strongly associated with presence of steroid-cell autoantibodies. Two of 24 (8%) women with Addison Disease-related premature ovarian failure and 1 of 57 (2%) women with isolated premature ovarian failure or premature ovarian failure plus nonadrenal autoimmune Disease were positive for 3β-HSD antibodies. None of 20 adult women with autoimmune Addison Disease and none of 42 adult women with type 1 diabetes mellitus not associated with premature ovarian failure was positive for 3β-HSD antibodies. Conclusion(s): Markers of steroid-cell autoimmunity are found only rarely in idiopathic premature ovarian failure not associated with Addison Disease. Most women with Addison Disease-related premature ovarian failure were positive for steroid-cell autoantibodies, 17α-OH antibodies, or P450 side-chain cleavage antibodies. 3β-Hydroxysteroid dehydrogenase antibodies do not appear to be a major marker of steroid-cell autoimmunity.
Mariacarolina Salerno - One of the best experts on this subject based on the ideXlab platform.
-
cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1 report of a case and brief review of the literature
BMC Pediatrics, 2014Co-Authors: Nicola Improda, Donatella Capalbo, Emilia Cirillo, Manuela Cerbone, Andrea Esposito, Claudio Pignata, Mariacarolina SalernoAbstract:Autoimmune polyendocrine syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy, is a rare autosomal recessive Disease due to pathogenic variants in the AIRE gene. Classic features of the syndrome are mucocutaneous candidiasis, chronic idiopathic hypoparathyroidism and Addison Disease. However, other endocrine and non-endocrine components, may occur with a different prevalence. In addition to ectodermal features, which are quite common features of the Disease, APS 1 patients may experience other types of skin alterations, such as vasculitic skin rash. An early diagnosis of APS 1 can be very challenging, due to the high clinical heterogeneity, and a considerable delay may occur between the appearance of symptoms and the diagnosis. We report on a girl affected by APS 1 who presented with cutaneous vasculitis when she was seven-months old, some years before the onset of the common components of the Disease. Clinical picture of APS 1 may be characterized by isolated rare or atypical autoimmune or immune-mediated manifestations, even years before the onset of the classic components of the Disease. Among these uncommon features, skin rashes of variable form and duration may occur, most of them being associated with histopathological features of vasculitis. Our case suggests that cutaneous vasculitis may represent a first sign of APS 1. The clinical significance of cutaneous vasculitis in the context of APS 1 is still debated. It may represent a rare, unusual, early component of the Disease or a clinical manifestation secondarily related to the typical APS 1 components (i.e. autoimmune thyroid Disease), which are frequently associated with rheumatologic-like signs and symptoms. Alternatively, it may be the expression of an independent Disease co-occuring with APS 1. In conclusion, our case suggests that children presenting with unexplained vasculitic skin rash should be followed-up in order to early identify APS 1.
Stanko Skrtic - One of the best experts on this subject based on the ideXlab platform.
-
improved urinary cortisol metabolome in Addison Disease a prospective trial of dual release hydrocortisone
The Journal of Clinical Endocrinology and Metabolism, 2021Co-Authors: Stephanie Espiard, Johanna Mcqueen, Mark Sherlock, Oskar Ragnarsson, Ragnhildur Bergthorsdottir, Pia Burman, Per Dahlqvist, Bertil Ekman, Britt Eden Engstrom, Stanko SkrticAbstract:CONTEXT: Oral once-daily dual-release hydrocortisone (DR-HC) replacement therapy has demonstrated an improved metabolic profile compared to conventional 3-times-daily (TID-HC) therapy among patients with primary adrenal insufficiency. This effect might be related to a more physiological cortisol profile, but also to a modified pattern of cortisol metabolism. OBJECTIVE: This work aimed to study cortisol metabolism during DR-HC and TID-HC. DESIGN: A randomized, 12-week, crossover study was conducted. INTERVENTION AND PARTICIPANTS: DC-HC and same daily dose of TID-HC were administered to patients with primary adrenal insufficiency (n = 50) vs healthy individuals (n = 124) as controls. MAIN OUTCOME MEASURES: Urinary corticosteroid metabolites were measured by gas chromatography/mass spectrometry at 24-hour urinary collections. RESULTS: Total cortisol metabolites decreased during DR-HC compared to TID-HC (P < .001) and reached control values (P = .089). During DR-HC, 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) activity measured by tetrahydrocortisol + 5α-tetrahydrocortisol/tetrahydrocortisone ratio was reduced compared to TID-HC (P < .05), but remained increased vs controls (P < .001). 11β-HSD2 activity measured by urinary free cortisone/free cortisol ratio was decreased with TID-HC vs controls (P < .01) but normalized with DR-HC (P = .358). 5α- and 5β-reduced metabolites were decreased with DR-HC compared to TID-HC. Tetrahydrocortisol/5α-tetrahydrocortisol ratio was increased during both treatments, suggesting increased 5β-reductase activity. CONCLUSIONS: The urinary cortisol metabolome shows striking abnormalities in patients receiving conventional TID-HC replacement therapy, with increased 11β-HSD1 activity that may account for the unfavorable metabolic phenotype in primary adrenal insufficiency. Its change toward normalization with DR-HC may mediate beneficial metabolic effects. The urinary cortisol metabolome may serve as a tool to assess optimal cortisol replacement therapy.