Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.

We describe herein the European Reference Network on Rare Endocrine Conditions clinical practice guideline on diagnosis and management of familial forms of hyperaldosteronism. The guideline panel consisted of 10 experts in primary aldosteronism, endocrine hypertension, paediatric endocrinology, and cardiology as well as a methodologist. A systematic literature search was conducted, and because of the rarity of the condition, most recommendations were based on expert opinion and small patient series. The guideline includes a brief description of the genetics and molecular pathophysiology associated with each condition, the patients to be screened, and how to screen. Diagnostic and treatment approaches for patients with genetically determined diagnosis are presented. The recommendations apply to patients with genetically proven familial hyperaldosteronism and not to families with more than one case of primary aldosteronism without demonstration of a responsible pathogenic variant.

International Roadshow: New Advances in Endocrinology and Metabolic Diseases.

Dear Readers,Currently, there is a myriad of new developments in the field of endocrinology. In particular, significant strides have been made in the development of poly-agonists for the treatment of type 2 diabetes and obesity 1 2. Poly-agonists represent a novel therapeutic approach by combining multiple actions within a single molecule, targeting multiple receptors simultaneously to achieve enhanced efficacy. These innovative compounds aim to address the complex interplay of hormonal pathways involved in glucose regulation and metabolism, offering potential breakthroughs in the management of diabetes and obesity.

A longitudinal study of endocrinology and foraging ecology of subadult gray whales prior to death based on baleen analysis.

Individual-level assessments of wild animal health, vital rates, and foraging ecology are critical for understanding population-wide impacts of exposure to stressors. Large whales face multiple stressors, including, but not limited to, ocean noise, pollution, and ship strikes. Because baleen is a continuously growing keratinized structure, serial extraction, and quantification of hormones and stable isotopes along the length of baleen provide a historical record of whale physiology and foraging ecology. Furthermore, baleen analysis enables the investigation of dead specimens, even decades later, allowing comparisons between historic and modern populations. Here, we examined baleen of five sub-adult gray whales and observed distinct patterns of oscillations in δ15N values along the length of their baleen plates which enabled estimation of baleen growth rates and differentiation of isotopic niche widths of the whales during wintering and summer foraging. In contrast, no regular patterns were apparent in δ13C values. Prolonged elevation of cortisol in four individuals before death indicates that chronic stress may have impacted their health and survival. Triiodothyronine (T3) increased over months in the whales with unknown causes of death, simultaneous with elevations in cortisol, but both hormones remained stable in the one case of acute death attributed to killer whale predation. This parallel elevation of cortisol and T3 challenges the classic understanding of their interaction and might relate to increased energetic demands during exposure to stressors. Reproductive hormone profiles in subadults did not show cyclical trends, suggesting they had not yet reached sexual maturity. This study highlights the potential of baleen analysis to retrospectively assess gray whales' physiological status, exposure to stressors, reproductive status, and foraging ecology in the months or years leading up to their death, which can be a useful tool for conservation diagnostics to mitigate unusual mortality events.

Endocrinology's early historians (1889-1914) and the forgotten prehistory of testosterone.

INTRODUCTION: An often-retold historical outline of endocrinology was established over a century ago. An exhaustive history of sexual physiology remains forthcoming, however. OBJECTIVES: To explore and contextualize the remarkable medical-historical and medical-anthropologic frenzy triggered by Brown-Séquard's 1889 self-injections with testicular juice, which ultimately settled down into an early history of endocrinology. METHODS: Pertinent primary sources were selected from a broader study, primarily between 1889 and 1914, as well as selected older texts identified and unidentified by these sources. RESULTS: Endocrinology's early historians in a short space of time moved from the history of testicular opotherapy to that of glandular typology and physiology and to increasingly encompassing medical-historical accounts of internal secretion as an epochal idea. Early historians nominated "precursors" to Brown-Séquard but underestimated physiologic continuities-specifically, early modern protoendocrinologic notions concerning semen as a "recrement," notions still recited by Brown-Séquard and early Brown-Séquardists as well their detractors. Brown-Séquard himself worked through this old (recremental) concept of semen between 1889 and 1892 but was later identified with it, by among others Ancel and Bouin. CONCLUSION: Western sexual physiology is a medical palimpsest, the undertexts of which remain to be studied in detail.

Social media's impact on patient provider choice.

OBJECTIVE: This study aimed to investigate if social media (SM) impacts a patient's provider choice in the field of reproductive endocrinology and infertility (REI). METHODS: This was a survey-based study completed in July 2022. A survey link was distributed using Amazon Mechanical Turk, which directed participants to a Qualtrics-based survey. Participants were 18-50 years old. The primary outcome was to identify the preferred method for finding a REI provider based on time spent on SM (< 1 h, 1-3 h, 3 + h). RESULTS: A total of 336 responses were analyzed. Fifty-four percent of respondents used SM < 1 h, 33.33% used 1-3 h, and 12.80% used 3 + h. The majority (69.05%) of respondents stated that they would seek out a REI provider/clinic if they had difficulty conceiving. Most respondents identified asking their primary care physician (44.64%) as the primary means for finding an REI provider/clinic and did not prefer to use SM. Although Facebook (< 1 h: 30.94%, 1-3 h: 31.25%, 3 + h: 27.91%) was the most utilized SM platform among respondents, YouTube was the preferred SM platform if respondents were to follow a REI clinic with a preference for posts focusing on education (< 1 h: 55.68%, 1-3 h: 43.12%, 3 + h: 58.14%) or stress management (< 1 h: 17.61%, 1-3 h: 29.36%, 3 + h: 20.94%). CONCLUSION: Most respondents utilize traditional methods when choosing their REI provider or clinic and would not utilize SM. However, SM, primarily through YouTube, may be helpful for educating infertility patients and providing support and stress relief while they undergo treatment.

Artificial intelligence in paediatric endocrinology: conflict or cooperation.

Artificial intelligence (AI) in medicine is transforming healthcare by automating system tasks, assisting in diagnostics, predicting patient outcomes and personalising patient care, founded on the ability to analyse vast datasets. In paediatric endocrinology, AI has been developed for diabetes, for insulin dose adjustment, detection of hypoglycaemia and retinopathy screening; bone age assessment and thyroid nodule screening; the identification of growth disorders; the diagnosis of precocious puberty; and the use of facial recognition algorithms in conditions such as Cushing syndrome, acromegaly, congenital adrenal hyperplasia and Turner syndrome. AI can also predict those most at risk from childhood obesity by stratifying future interventions to modify lifestyle. AI will facilitate personalised healthcare by integrating data from 'omics' analysis, lifestyle tracking, medical history, laboratory and imaging, therapy response and treatment adherence from multiple sources. As data acquisition and processing becomes fundamental, data privacy and protecting children's health data is crucial. Minimising algorithmic bias generated by AI analysis for rare conditions seen in paediatric endocrinology is an important determinant of AI validity in clinical practice. AI cannot create the patient-doctor relationship or assess the wider holistic determinants of care. Children have individual needs and vulnerabilities and are considered in the context of family relationships and dynamics. Importantly, whilst AI provides value through augmenting efficiency and accuracy, it must not be used to replace clinical skills.

[Endocrinology: what's new in 2023]. / Endocrinologie: ce qui a changé en 2023.

This overview provides a selection of studies published in 2023 with an impact on clinical practice. In reproductive endocrinology, important studies have addressed fertility preservation in men with Klinefelter's syndrome, the cardiovascular safety of testosterone replacement therapy, and a novel therapy, fezolinetant, for vasomotor symptoms of menopause. The updated European recommendations concerning adrenal incidentalomas will considerably modify current clinical practice. Based on a solid epidemiological work, the prevalence of pituitary adenomas has been confirmed to affect about 1 per 1000 individuals. Finally, a large British study allows to refine the benefit-risk profile of the three options available for the treatment of hyperthyroidism.

Cet aperçu présente une sélection d'études publiées en 2023 ayant un impact sur la pratique clinique. En endocrinologie de reproduction, des études importantes ont abordé la préservation de la fertilité chez les hommes avec un syndrome de Klinefelter, la sécurité cardiovasculaire du traitement substitutif par testostérone et une nouvelle thérapie, fezolinetant, pour les symptômes vasomoteurs de la ménopause. La mise à jour des recommandations européennes concernant les incidentalomes surrénaliens va considérablement modifier la pratique clinique. Grâce à un travail épidémiologique solide, la prévalence des adénomes hypophysaires est confirmée à environ 1 cas pour 1000 individus. Enfin, une large étude britannique permet de raffiner le profil bénéfices-risques des trois options disponibles pour le traitement de l'hyperthyroïdie.

Gastrointestinal hormones: History, biology, and measurement.

This chapter attempts to provide an all-round picture of a dynamic and major branch of modern endocrinology, i.e. the gastrointestinal endocrinology. The advances during the last half century in our understanding of the dimensions and diversity of gut hormone biology - inside as well as outside the digestive tract - are astounding. Among major milestones are the dual brain-gut relationship, i.e. the comprehensive expression of gastrointestinal hormones as potent transmitters in central and peripheral neurons; the hormonal signaling from the enteroendocrine cells to the brain and other extraintestinal targets; the role of gut hormones as growth and fertility factors; and the new era of gut hormone-derived drugs. Accordingly, gastrointestinal hormones have pathogenetic roles in major metabolic disorders (diabetes mellitus and obesity); in tumor development (common cancers, sarcomas, and neuroendocrine tumors); and in cerebral diseases (anxiety, panic attacks, and probably eating disorders). Such clinical aspects require accurate pathogenetic and diagnostic measurements of gastrointestinal hormones - an obvious responsibility for clinical chemistry/biochemistry. In order to obtain a necessary insight into today's gastrointestinal endocrinology, the chapter will first describe the advances in gastrointestinal endocrinology in a historical context. The history provides a background for the subsequent description of the present biology of gastrointestinal hormones, and its biomedical consequences - not least for clinical chemistry/biochemistry with its specific responsibility for selection of appropriate assays and reliable measurements.

Key Stages in the Development and Establishment of Paediatric Endocrinology: A Template for Future Progress.

BACKGROUND: Paediatric endocrinology became recognised in Western European countries in the 1960s and 1970s. It is now a thriving paediatric sub-speciality in many countries but remains non-existent or in its infancy in others. We have had the privilege to work in Western centres of excellence, and this review outlines the key stages in the development of modern centres, discussing the human and organisational issues that have underpinned progress in the establishment of this paediatric sub-speciality. SUMMARY: Human determination, vision, and ambition to create a modern centre and become a national flag bearer in the field are key components of success. The realisation that learning by spending time as a fellow away from one's home institution, so that knowledge can be acquired and brought back home, is also a key factor. Career structures should be designed to mentor and guide the trainee returning from a fellowship abroad. Scientific societies such as the European Society for Paediatric Endocrinology (ESPE) are key resources for networking, support, and discussion with experienced colleagues who may have faced similar challenges. Training and acquisition of knowledge through on-site or e-learning initiatives are beneficial and numerous examples exist, including the telemedicine model of store-and-forward consultations. Leadership skills can be learnt, and good working relationships with adult endocrinology colleagues result in benefits and political support. KEY MESSAGES: The development of paediatric endocrinology in a region with hitherto no such facilities constitutes a major contribution to local, regional, and, in all likelihood, national patient care.