Recommendations for the measurement of sexual steroids in clinical practice. A position statement of SEQCML/SEEN/SEEP

Immunoassay; Sexual steroids; TestosteroneImmunoassaig; Esteroides sexuals; TestosteronaInmunoensayo; Esteroides sexuales; TestosteronaThe proper clinical approach to a wide range of disorders relies on the availability of accurate, reproducible laboratory results for sexual steroids measured using methods with a high specificity and sensitivity. The chemiluminescent immunoassays currently available have analytical limitations with significant clinical implications. This position statement reviews the current limitations of laboratory techniques for the measurement of estradiol and testosterone and their impact on diverse clinical scenarios. A set of recommendations are provided to incorporate steroid hormone analysis by mass spectrometry in national health systems. International societies have recommended this methodology for a decade

Phase angle by electrical bioimpedance is a predictive factor of hospitalisation, falls and mortality in patients with cirrhosis

The phase angle is a versatile measurement to assess body composition, frailty and prognosis in patients with chronic diseases. In cirrhosis, patients often present alterations in body composition that are related to adverse outcomes. The phase angle could be useful to evaluate prognosis in these patients, but data are scarce. The aim was to analyse the prognostic value of the phase angle to predict clinically relevant events such as hospitalisation, falls, and mortality in patients with cirrhosis. Outpatients with cirrhosis were consecutively included and the phase angle was determined by electrical bioimpedance. Patients were prospectively followed to determine the incidence of hospitalisations, falls, and mortality. One hundred patients were included. Patients with phase angle ≤ 4.6° (n = 31) showed a higher probability of hospitalisation (35% vs 11%, p = 0.003), falls (41% vs 11%, p = 0.001) and mortality (26% vs 3%, p = 0.001) at 2-year follow-up than patients with PA > 4.6° (n = 69). In the multivariable analysis, the phase angle and MELD-Na were independent predictive factors of hospitalisation and mortality. Phase angle was the only predictive factor for falls. In conclusion, the phase angle showed to be a predictive marker for hospitalisation, falls, and mortality in outpatients with cirrhosis

Phase angle by electrical bioimpedance is a predictive factor of hospitalisation, falls and mortality in patients with cirrhosis

The phase angle is a versatile measurement to assess body composition, frailty and prognosis in patients with chronic diseases. In cirrhosis, patients often present alterations in body composition that are related to adverse outcomes. The phase angle could be useful to evaluate prognosis in these patients, but data are scarce. The aim was to analyse the prognostic value of the phase angle to predict clinically relevant events such as hospitalisation, falls, and mortality in patients with cirrhosis. Outpatients with cirrhosis were consecutively included and the phase angle was determined by electrical bioimpedance. Patients were prospectively followed to determine the incidence of hospitalisations, falls, and mortality. One hundred patients were included. Patients with phase angle¿=¿4.6° (n¿=¿31) showed a higher probability of hospitalisation (35% vs 11%, p¿=¿0.003), falls (41% vs 11%, p¿=¿0.001) and mortality (26% vs 3%, p¿=¿0.001) at 2-year follow-up than patients with PA¿>¿4.6° (n¿=¿69). In the multivariable analysis, the phase angle and MELD-Na were independent predictive factors of hospitalisation and mortality. Phase angle was the only predictive factor for falls. In conclusion, the phase angle showed to be a predictive marker for hospitalisation, falls, and mortality in outpatients with cirrhosis.Postprint (published version

Recomendaciones para la medición de esteroides sexuales en la práctica clínica. Documento de posicionamiento SEQCML/SEEN/SEEP

La correcta aproximación clínica a un amplio grupo de situaciones depende en gran medida de la disponibilidad de resultados analíticos de esteroides sexuales que sean exactos y reproducibles, obtenidos con métodos con la especificidad y sensibilidad analíticas adecuadas. En este sentido, los inmunoanálisis quimioluminiscentes actuales presentan limitaciones analíticas con repercusiones clínicas importantes. El documento de posicionamiento revisa el estado actual en la estandarización de los métodos de medida de estradiol y testosterona y su repercusión en distintas situaciones clínicas. Se incluye asimismo una serie de recomendaciones a seguir para introducir en los sistemas nacionales de salud los análisis de esteroides por espectrometría de masas, metodología recomendada desde hace más de una década por las sociedades internacionales

Recommendations for the measurement of sexual steroids in clinical practice. A position statement of SEQCML/SEEN/SEEP

The proper clinical approach to a wide range of disorders relies on the availability of accurate, reproducible laboratory results for sexual steroids measured using methods with a high specificity and sensitivity. The chemiluminescent immunoassays currently available have analytical limitations with significant clinical implications. This position statement reviews the current limitations of laboratory techniques for the measurement of estradiol and testosterone and their impact on diverse clinical scenarios. A set of recommendations are provided to incorporate steroid hormone analysis by mass spectrometry in national health systems. International societies have recommended this methodology for a decade

11-Deoxycorticosterone Producing Adrenal Hyperplasia as a Very Unusual Cause of Endocrine Hypertension : Case Report and Systematic Review of the Literature

11-deoxycorticosterone overproduction due to an adrenal tumor or hyperplasia is a very rare cause of mineralocorticoid-induced hypertension. The objective is to provide the most relevant clinical features that clinicians dealing with patients presenting with the hallmarks of hypertension due to 11-deoxycorticosterone-producing adrenal lesions should be aware of. We report the case of a patient with an 11-deoxycorticosterone-producing adrenal lesion and provide a systematic review of all published cases (PubMed, Web of Science and EMBASE) between 1965 and 2021. We identified 46 cases (including ours). Most cases (31, 67%) affected women with a mean age of 42.9 ± 15.2 years and presented with high blood pressure and hypokalemia (average of 2.68 ± 0.62 mmol/L). Median (interquartile range) time from onset of first suggestive symptoms to diagnosis was 24 (55) months. Aldosterone levels were low or in the reference range in 98% of the cases when available. 11-deoxycorticosterone levels were a median of 12.5 (18.9) times above the upper limit of the normal reference range reported in each article and overproduction of more than one hormone was seen in 31 (67%). Carcinoma was the most common histological type (21, 45.7%). Median tumor size was 61.5 (60) mm. Malignant lesions were larger, had higher 11-deoxycorticosterone levels and shorter time of evolution at diagnosis compared to benign lesions. 11-deoxycorticosterone-producing adrenal lesions are very rare, affecting mostly middle-aged women with a primary aldosteronism-like clinical presentation and carcinoma is the most frequent histological diagnosis. Measuring 11-deoxycorticosterone levels, when low aldosterone levels or in the lower limit of the reference range are present in hypertensive patients, is advisable. Open Science Framework

Comprehensive Genetic Testing of CYP21A2 : A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia

The most common form of congenital adrenal hyperplasia (CAH) results from a deficiency of the 21-hydroxylase enzyme (21-OHD), presenting with a broad spectrum of clinical phenotypes according to the CYP21A2 gene mutations. Of the 59 patients with suspected CAH, 62.7% presented a positive genetic result. Of them, 78.4% and 18.9% presented with non-classical and classical forms, respectively. An overall phenotype-genotype correlation of 88.9% was observed. Biochemically, 17-hydroxiprogesterone concentrations were significantly higher in genetically confirmed patients. Genetically, 36 patients presented with previously reported pathogenic variants, and one presented a new variant in homozygosis. Among the 74 alleles tested, point mutations were found in 89.2% and large rearrangements were found in the rest. The most prevalent pathogenic variant was p.(Val282Leu). The inclusion of relatives revealed one further case. Interestingly, 87.5% of relatives were carriers of a pathogenic variant, including two siblings initially classified as genetically positive. In addition, the study of male partners with gestational desire identified several carriers of mild mutations. Studying the allelic distribution of the variants also allowed for reclassifying one patient. In conclusion, a genetic approach including Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis, and allelic distribution of the pathogenic variants represents a beneficial tool for better classifying patients with 21-OHD

A Probabilistic Model for Cushing's Syndrome Screening in At-Risk Populations: A Prospective Multicenter Study.

Cushing's syndrome (CS) is challenging to diagnose. Increased prevalence of CS in specific patient populations has been reported, but routine screening for CS remains questionable. To decrease the diagnostic delay and improve disease outcomes, simple new screening methods for CS in at-risk populations are needed. To develop and validate a simple scoring system to predict CS based on clinical signs and an easy-to-use biochemical test. Observational, prospective, multicenter. Referral hospital. A cohort of 353 patients attending endocrinology units for outpatient visits. All patients were evaluated with late-night salivary cortisol (LNSC) and a low-dose dexamethasone suppression test for CS. Diagnosis or exclusion of CS. Twenty-six cases of CS were diagnosed in the cohort. A risk scoring system was developed by logistic regression analysis, and cutoff values were derived from a receiver operating characteristic curve. This risk score included clinical signs and symptoms (muscular atrophy, osteoporosis, and dorsocervical fat pad) and LNSC levels. The estimated area under the receiver operating characteristic curve was 0.93, with a sensitivity of 96.2% and specificity of 82.9%. We developed a risk score to predict CS in an at-risk population. This score may help to identify at-risk patients in non-endocrinological settings such as primary care, but external validation is warranted

Carns vermelles i salut

The purpose of this paper is to present a scientific consideration of the consumption of red meats as it relates to health and to the sustainability of our planet, and to help professionals and consumers to reflect on this matter and make suitable decisions in this respect. An interdependence clearly exists between climate change, our dietary models and our health, and all of this involves various factors. It should be kept in mind that not all types of foods, diets or alimentary patterns have the same environmental impact. The most highly “questioned” foods include intensively produced red meats and processed foods. These types of foods are consumed in larger quantities and with greater frequency in the developed societies, and above all in the most highly urbanised areas. It is known that 22% of the deaths in our world may be attributed to diet (overeating, poor diets or malnutrition) and this obliges us to consider the importance of carefully choosing the foods that we eat, together with the quantities of these foods and the frequency with which we eat them. It should also be recalled that 14% of the greenhouse gases (GHGs) come from livestock and 30% are related to the food system, which explains the great influence of livestock on food sustainability. A balanced diet based on varied foods, above all including those of vegetable origin, is a possible solution for reducing greenhouse gas emissions (per gramme of protein and per calorie ingested). Such a diet is also healthier, helping to reduce the risk of non-communicable chronic illnesses. Progress should be made towards the achievement of environmentally more sustainable livestock management and a careful monitoring of impacts should be carried out, while increasing the production of vegetable foods and their consumption in different fields.L’objectiu d’aquest article és presentar una visió científica sobre el consum de les carns vermelles en relació amb la salut i la sostenibilitat del planeta, i ajudar els professionals i els consumidors a reflexionar-hi i prendre les seves decisions. Hi ha una clara interdependència del canvi climàtic amb els models alimentaris i la nostra salut, tot relacionat amb diferents factors. Cal tenir present que no totes les formes d’alimentació, dietes o patrons alimentaris generen els mateixos impactes ambientals. Entre els aliments més «qüestionats» hi ha les carns vermelles de producció intensiva i els aliments processats. Aquest tipus d’aliments són consumits en majors quantitats i freqüència en les societats desenvolupades i sobretot en les zones més urbanitzades. Sabem que el 22 % de les morts que es produeixen al món es poden atribuir a l’alimentació (sobrealimentació, mala alimentació o desnutrició) i aquesta dada ens fa reflexionar sobre la importància d’escollir bé els aliments que prenem, les quantitats i la freqüència. També, cal ser conscients que el 14 % dels gasos amb efecte d’hivernacle (GEH) provenen del bestiar, i un 30 % té a veure amb el sistema alimentari, la qual cosa aclareix la dimensió important de la influència del bestiar en la sostenibilitat alimentària. Una dieta equilibrada, basada en aliments variats, sobretot d’origen vegetal, és una alternativa possible per a la disminució de l’emissió de gasos (per gram de proteïna i caloria ingerida), i també és més saludable per reduir el risc de l’aparició de malalties cròniques no transmissibles. Caldrà avançar en una gestió ramadera ambiental més sostenible, fer un seguiment acurat d’impactes i eixamplar la producció vegetal (i el seu consum) en diversos sentits