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Article ; Online: Familial non medullary thyroid carcinoma: Beyond the syndromic forms.

Orois, Aida / Mora, Mireia / Halperin, Irene / Oriola, Josep

Endocrinologia, diabetes y nutricion

2021 Volume 68, Issue 4, Page(s) 260–269

Abstract: Familial non-medullary thyroid cancer is defined as the presence of non-medullary thyroid cancer in two or more first-degree relatives, in the absence of other predisposing factors. It represents up to 9% of differentiated thyroid cancers, and only a ... ...

Abstract	Familial non-medullary thyroid cancer is defined as the presence of non-medullary thyroid cancer in two or more first-degree relatives, in the absence of other predisposing factors. It represents up to 9% of differentiated thyroid cancers, and only a minority appears in well-known hereditary syndromes that associate thyroid cancer among many other clinical manifestations. However, in more than 95% of cases, thyroid cancer appears isolated, and its genetic causes have yet to be elucidated. We review here the current knowledge of the genetic basis of this pathology, as well as its clinical characteristics. Understanding the genetic mechanisms implied would help to comprehend the metabolic pathways involved, with the consequent potential therapeutic application. In addition, it would allow genetic counseling and to focus our efforts on patients at risk of developing this disorder.
MeSH term(s)	Humans ; Neoplastic Syndromes, Hereditary/genetics ; Thyroid Cancer, Papillary/genetics ; Thyroid Neoplasms/genetics
Language	English
Publishing date	2021-07-08
Publishing country	Spain
Document type	Journal Article ; Review
ISSN	2530-0180
ISSN (online)	2530-0180
DOI	10.1016/j.endien.2020.08.013
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Article ; Online: Familial non medullary thyroid carcinoma: Beyond the syndromic forms.

Orois, Aida / Mora, Mireia / Halperin, Irene / Oriola, Josep

Endocrinologia, diabetes y nutricion

2020 Volume 68, Issue 4, Page(s) 260–269

Title translation	Carcinoma diferenciado de tiroides familiar: más allá de las formas sindrómicas.
Abstract	Familial non-medullary thyroid cancer is defined as the presence of non-medullary thyroid cancer in two or more first-degree relatives, in the absence of other predisposing factors. It represents up to 9% of differentiated thyroid cancers, and only a minority appears in well-known hereditary syndromes that associate thyroid cancer among many other clinical manifestations. However, in more than 95% of cases, thyroid cancer appears isolated, and its genetic causes have yet to be elucidated. We review here the current knowledge of the genetic basis of this pathology, as well as its clinical characteristics. Understanding the genetic mechanisms implied would help to comprehend the metabolic pathways involved, with the consequent potential therapeutic application. In addition, it would allow genetic counseling and to focus our efforts on patients at risk of developing this disorder.
Language	Spanish
Publishing date	2020-11-13
Publishing country	Spain
Document type	Journal Article ; Review
ISSN	2530-0180
ISSN (online)	2530-0180
DOI	10.1016/j.endinu.2020.08.002
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Article: Ketoconazole- and Metyrapone-Induced Reductions on Urinary Steroid Metabolites Alter the Urinary Free Cortisol Immunoassay Reliability in Cushing Syndrome.

Vega-Beyhart, Arturo / Laguna-Moreno, Javier / Díaz-Catalán, Daniela / Boswell, Laura / Mora, Mireia / Halperin, Irene / Casals, Gregori / Hanzu, Felicia A

Frontiers in endocrinology

2022 Volume 13, Page(s) 833644

Abstract: Introduction: Twenty-four-hour urinary free cortisol (24h-UFC) is the most used test for follow-up decision-making in patients with Cushing syndrome (CS) under medical treatment. However, 24h-UFC determinations by immunoassays (IA) are commonly ... ...

Abstract	Introduction: Twenty-four-hour urinary free cortisol (24h-UFC) is the most used test for follow-up decision-making in patients with Cushing syndrome (CS) under medical treatment. However, 24h-UFC determinations by immunoassays (IA) are commonly overestimated because of steroid metabolites' cross-reaction. It is still uncertain how ketoconazole (KTZ)- and metyrapone (MTP)-induced changes on the urinary steroid metabolites can alter the 24h-UFCIA determinations' reliability. Methods:* 24h-UFC was analyzed by IA and gas chromatography-mass spectrometry (GC-MS) in 193 samples (81 before treatment, 73 during KTZ, and 39 during MTP) from 34 CS patients. In addition, urinary steroidome was analyzed by GC-MS on each patient before and during treatment. Results: Before treatment, 24h-UFCIA determinations were overestimated by a factor of 1.75 (95% CI 1.60-1.94) compared to those by GC-MS. However, during KTZ treatment, 24h-UFCIA results were similar (0.98:1) to those by GC-MS (95% CI, 0.83-1.20). In patients taking MTP, IA bias only decreased 0.55, resulting in persistence of an overestimation factor of 1.33:1 (95% CI, 1.09-1.76). High method agreement between GC-MS and IA before treatment ( Conclusion: KTZ and MTP alter the urinary excretion of IA cross-reactive steroid metabolites, thus decreasing the cross-reactive interference of 24h-UFCIA determinations present before treatment. Consequently, this interference reduction in 24h-UFCIA leads to loss of method agreement with GC-MS and high risk of overestimating the biochemical impact of KTZ and MTP in controlling CS because of poor reliability of reference ranges and ULN.
MeSH term(s)	Cushing Syndrome/diagnosis ; Cushing Syndrome/drug therapy ; Humans ; Hydrocortisone/analysis ; Immunoassay ; Ketoconazole/therapeutic use ; Metyrapone ; Reproducibility of Results ; Steroids
Chemical Substances	Steroids ; Ketoconazole (R9400W927I) ; Hydrocortisone (WI4X0X7BPJ) ; Metyrapone (ZS9KD92H6V)
Language	English
Publishing date	2022-02-23
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2022.833644
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Article: Cardiovascular Risk Associated With Gender Affirming Hormone Therapy in Transgender Population.

Aranda, Gloria / Halperin, Irene / Gomez-Gil, Esther / Hanzu, Felicia A / Seguí, Núria / Guillamon, Antonio / Mora, Mireia

Frontiers in endocrinology

2021 Volume 12, Page(s) 718200

Abstract: Transgender men and women represent about 0.6 -1.1%% of the general population. Gender affirming hormone therapy (GAHT) helps ameliorate gender dysphoria and promote well-being. However, these treatments' cardiovascular (CV) effects are difficult to ... ...

Abstract	Transgender men and women represent about 0.6 -1.1%% of the general population. Gender affirming hormone therapy (GAHT) helps ameliorate gender dysphoria and promote well-being. However, these treatments' cardiovascular (CV) effects are difficult to evaluate due to the limited number of extensive longitudinal studies focused on CV outcomes in this population. Furthermore, these studies are mainly observational and difficult to interpret due to a variety of hormone regimens and observation periods, together with possible bias by confounding factors (comorbidities, estrogen types, smoking, alcohol abuse, HIV infection). In addition, the introduction of GAHT at increasingly earlier ages, even before the full development of the secondary sexual characteristics, could lead to long-term changes in CV risk compared to current data. This review examines the impact of GAHT in the transgender population on CV outcomes and surrogate markers of CV health. Furthermore, we review available data on changes in DNA methylation or RNA transcription induced by GAHT that may translate into changes in metabolic parameters that could increase CV risk.
MeSH term(s)	Cardiovascular Diseases/chemically induced ; Cardiovascular Diseases/pathology ; Female ; Gender Dysphoria/drug therapy ; Gender Dysphoria/pathology ; Heart Disease Risk Factors ; Hormone Replacement Therapy/adverse effects ; Humans ; Male ; Prognosis ; Transgender Persons/statistics & numerical data
Language	English
Publishing date	2021-09-30
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2021.718200
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Article ; Online: Fusion of sacroiliac joints in acromegaly: a challenging finding.

Frade-Sosa, Beatriz / Florez, Helena / Isern-Kebschull, Jaime / Halperin, Irene / Guañabens, Núria

Rheumatology (Oxford, England)

2019 Volume 59, Issue 4, Page(s) 898

MeSH term(s)	Adenoma/complications ; Adenoma/therapy ; Ankylosis/complications ; Ankylosis/diagnostic imaging ; Calcinosis/complications ; Calcinosis/diagnostic imaging ; Growth Hormone-Secreting Pituitary Adenoma/complications ; Growth Hormone-Secreting Pituitary Adenoma/therapy ; Humans ; Longitudinal Ligaments/diagnostic imaging ; Male ; Middle Aged ; Neurosurgical Procedures ; Ossification of Posterior Longitudinal Ligament/complications ; Ossification of Posterior Longitudinal Ligament/diagnostic imaging ; Radiography ; Radiotherapy, Adjuvant ; Sacroiliac Joint/diagnostic imaging ; Tomography, X-Ray Computed
Language	English
Publishing date	2019-10-15
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/kez468
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Article ; Online: Effects of sex steroids on cardiovascular risk profile in transgender men under gender affirming hormone therapy.

Aranda, Gloria / Mora, Mireia / Hanzu, Felicia A / Vera, Josep / Ortega, Emilio / Halperin, Irene

Endocrinologia, diabetes y nutricion

2019 Volume 66, Issue 6, Page(s) 385–392

Abstract: Purpose: Gender affirming hormone therapy (HT) in transgender men both improves and impairs several surrogate cardiovascular risk markers. However, few prospective works with long follow-up and control group are available. In this context, this work ... ...

Abstract	Purpose: Gender affirming hormone therapy (HT) in transgender men both improves and impairs several surrogate cardiovascular risk markers. However, few prospective works with long follow-up and control group are available. In this context, this work aimed to assess the changes in the metabolic and cardiovascular risk pattern after 12 months of HT in transgender men. Furthermore, we aimed to investigate early effects on target tissues that may reflect an initial vascular damage. Methods: Prospective observational study, including 20 transgender men, attended in the Gender Identity Unit (UIG) of the Hospital Clinic from July 2013 to November 2015. Anthropometric and body composition by dual-energy X-ray absorptiometry (DXA), hormonal, metabolic and coagulation parameters, endothelial dysfunction by flow-mediated dilation (FMD) and intima-media thickness (IMT) by carotid ultrasound, were assessed at baseline, at 6 and 12 months of HT. Results: We observed an impairment of lipid profile, and increase of homocysteine and leucocytes count, as well as changes in body composition with increased total lean mass together with decreased total fat mass. In addition, higher mean-maximum common IMT was observed after 12 months of HT. Conclusion: Our work shows changes in metabolic and inflammatory parameters after HT after short-medium follow-up, which could increase cardiovascular risk in this setting, together with initial evidence of vascular changes.
MeSH term(s)	Adolescent ; Adult ; Cardiovascular Diseases/chemically induced ; Cardiovascular Diseases/epidemiology ; Gonadal Steroid Hormones/adverse effects ; Gonadal Steroid Hormones/therapeutic use ; Humans ; Male ; Metabolic Diseases/chemically induced ; Metabolic Diseases/epidemiology ; Prospective Studies ; Risk Assessment ; Sex Reassignment Procedures/methods ; Time Factors ; Young Adult
Chemical Substances	Gonadal Steroid Hormones
Language	Spanish
Publishing date	2019-01-28
Publishing country	Spain
Document type	Journal Article ; Observational Study
ISSN	2530-0180
ISSN (online)	2530-0180
DOI	10.1016/j.endinu.2018.11.004
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Article ; Online: Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer.

Orois, Aida / Badenas, Celia / Reverter, Jordi L / López, Verónica / Potrony, Miriam / Mora, Mireia / Halperin, Irene / Oriola, Josep

Hormones & cancer

2020 Volume 11, Issue 2, Page(s) 111–116

Abstract: To date, the genes involved in familial non-medullary thyroid cancer (FNMTC) remain poorly understood, with the exception of syndromic cases of FNMTC. It has been proposed that germline mutations in telomere-related genes, such as POT1, described in ... ...

Abstract	To date, the genes involved in familial non-medullary thyroid cancer (FNMTC) remain poorly understood, with the exception of syndromic cases of FNMTC. It has been proposed that germline mutations in telomere-related genes, such as POT1, described in familial melanoma might also predispose individuals to thyroid cancer, requiring further research. We aimed to identify germline mutations in POT1 in selected FNMTC families (with at least three affected members) without a history of other cancers or other features, and to describe the clinical characteristics of these families. Sequencing of the 5'UTR and coding regions of POT1 was performed in seven affected people (index cases) from seven families with FNMTC. In addition, we performed whole-exome sequencing (WES) of DNA from 10 affected individuals belonging to four of these families. We did not find germline variants of interest in POT1 by Sanger sequencing or WES. We neither found putative causative mutations in genes previously described as candidate genes for FNMTC in the 4 families studied by WES. In our study, no germline potentially pathogenic mutations were detected in POT1, minimizing the possibilities that this gene could be substantially involved in non-syndromic FNMTC.
MeSH term(s)	Adult ; Female ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Male ; Middle Aged ; Mutation ; Shelterin Complex ; Telomere-Binding Proteins/genetics ; Thyroid Cancer, Papillary/genetics ; Young Adult
Chemical Substances	POT1 protein, human ; Shelterin Complex ; Telomere-Binding Proteins
Language	English
Publishing date	2020-03-14
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	2543318-0
ISSN	1868-8500 ; 1868-8500
ISSN (online)	1868-8500
ISSN	1868-8500
DOI	10.1007/s12672-020-00383-5
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Article ; Online: There is no bubble, but there are conflicts of interests. Efforts to improve the credibility of the scientific process.

Lecube, Albert / Halperin, Irene / Mauricio, Didac

Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion

2014 Volume 61, Issue 9, Page(s) 443–444

MeSH term(s)	Conflict of Interest ; Editorial Policies ; Periodicals as Topic/ethics ; Publishing/ethics ; Research Design ; Science
Language	Spanish
Publishing date	2014-11
Publishing country	Spain
Document type	Journal Article
ZDB-ID	1469349-5
ISSN	1579-2021 ; 0211-2299 ; 1575-0922
ISSN (online)	1579-2021
ISSN	0211-2299 ; 1575-0922
DOI	10.1016/j.endonu.2014.09.003
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Article ; Online: NOP53

Orois, Aida / Gara, Sudheer K / Mora, Mireia / Halperin, Irene / Martínez, Sandra / Alfayate, Rocio / Kebebew, Electron / Oriola, Josep

Genes

2019 Volume 10, Issue 11

Abstract: Nonsyndromic familial non-medullary thyroid cancer (FNMTC) represents 3-9% of thyroid cancers, but the susceptibility gene(s) remain unknown. We designed this multicenter study to analyze families with nonsyndromic FNMTC and identify candidate ... ...

Abstract	Nonsyndromic familial non-medullary thyroid cancer (FNMTC) represents 3-9% of thyroid cancers, but the susceptibility gene(s) remain unknown. We designed this multicenter study to analyze families with nonsyndromic FNMTC and identify candidate susceptibility genes. We performed exome sequencing of DNA from four affected individuals from one kindred, with five cases of nonsyndromic FNMTC. Single Nucleotide Variants, and insertions and deletions that segregated with all the affected members, were analyzed by Sanger sequencing in 44 additional families with FNMTC (37 with two affected members, and seven with three or more affected members), as well as in an independent control group of 100 subjects. We identified the germline variant p. Asp31His in
MeSH term(s)	Cell Line, Tumor ; Female ; Genes, Modifier ; Germ-Line Mutation ; Humans ; Male ; Mutation, Missense ; Pedigree ; Penetrance ; Polymorphism, Single Nucleotide ; Thyroid Gland/metabolism ; Thyroid Neoplasms/genetics ; Thyroid Neoplasms/pathology ; Tumor Suppressor Proteins/genetics
Chemical Substances	NOP53 protein, human ; Tumor Suppressor Proteins
Language	English
Publishing date	2019-11-07
Publishing country	Switzerland
Document type	Journal Article ; Multicenter Study ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes10110899
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Article ; Online: Utility of proGRP as a tumor marker in the medullary thyroid carcinoma.

Parra-Robert, Marina / Orois, Aida / Augé, Josep Maria / Halperin, Irene / Filella, Xavier / Molina, Rafael

Clinical chemistry and laboratory medicine

2017 Volume 55, Issue 3, Page(s) 441–446

Abstract: Background: Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor caused by a malignant transformation in the parafollicular C-cells of the thyroid, where calcitonin (CT) is released. Nowadays the main tumor markers (TM) used in the diagnosis and ... ...

Abstract	Background: Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor caused by a malignant transformation in the parafollicular C-cells of the thyroid, where calcitonin (CT) is released. Nowadays the main tumor markers (TM) used in the diagnosis and follow-up of MTC patients are CT and carcinoembryonic antigen (CEA). Nonetheless, progastrin releasing peptide (proGRP) has been recently proposed as a TM useful in the MTC. Our aims were to investigate the release of proGRP in thyroid tumors, its role in the assessment of advanced MTC and its utility in the differential diagnosis between MTC and non-MTC thyroid tumors. Methods: Serum samples from 22 patients with MTC and 16 with non-MTC were collected. Patients were classified into advanced cancer or no evidence of disease (NED). ProGRP was performed by Architect (Abbot Diagnostics), CT by Liaison (Diasorin) and CEA by Cobas E601(Roche Diagnostics). Results: ProGRP median concentration in advanced MTC was significantly higher (1398.4 pg/mL) when compared with non-MTC, either in advanced disease (24.9 pg/mL) or NED (14.6 pg/mL). In non-MTC patients, proGRP median concentration was below its cutoff level (50 pg/mL). Similar to CT, proGRP was able to detect 88.9% of MTC patients, but with a slightly lower specificity of 76.9%. Using proGRP together with CT the sensitivity increased to 100%. Conclusions: The low prevalence of this malignancy strongly recommends further collaborative studies, mainly focused on monitoring proGRP during tyrosine kinase inhibitors treatment for early detection of resistance and assessing its usefulness to avoid the observed false positive fluctuations that occur with CT and CEA.
MeSH term(s)	Adenocarcinoma, Follicular/blood ; Adenocarcinoma, Follicular/secondary ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/blood ; Calcitonin/blood ; Carcinoembryonic Antigen/blood ; Carcinoma/blood ; Carcinoma/secondary ; Carcinoma, Neuroendocrine/blood ; Carcinoma, Neuroendocrine/secondary ; Carcinoma, Papillary ; Diagnosis, Differential ; Female ; Humans ; Immunoassay ; Lymphatic Metastasis ; Male ; Middle Aged ; Peptide Fragments/blood ; Recombinant Proteins/blood ; Thyroid Neoplasms/blood ; Thyroid Neoplasms/pathology ; Thyroid Neoplasms/secondary ; Young Adult
Chemical Substances	Biomarkers, Tumor ; Carcinoembryonic Antigen ; Peptide Fragments ; Recombinant Proteins ; pro-gastrin-releasing peptide (31-98) ; Calcitonin (9007-12-9)
Language	English
Publishing date	2017-03-01
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1418007-8
ISSN	1437-4331 ; 1434-6621 ; 1437-8523
ISSN (online)	1437-4331
ISSN	1434-6621 ; 1437-8523
DOI	10.1515/cclm-2016-0572
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