Endocrine Causes Research Articles

Chapter 4: Differential diagnosis of primary hyperparathyroidism.

The differential diagnosis of primary hyperparathyroidism can be considered clinically, biologically and radiologically. Clinically, primary hyperparathyroidism should be suspected in case of diffuse pain, renal lithiasis, osteoporosis, repeated fracture, cognitive or psychiatric disorder, or disturbance of consciousness. Nevertheless, the differential diagnosis of primary hyperparathyroidism is mainly biological, particularly in atypical forms, which must be differentiated from hypercalcemia with hypocalciuria or non-elevated PTH on the one hand, and from normo-calcemia with elevated PTH, hypophosphatemia or hypercalciuria on the other. Any differential diagnosis must be preceded by an analysis of the factors likely to disturb phospho-calcium parameters: vitamin D deficiency (assay), renal insufficiency (eGFR measurement), malabsorption (inflammatory disease of the digestive tract, celiac disease, bariatric surgery, etc.), insufficient calcium intake (GRIO questionnaire) and iatrogenic causes (diuretics, anti-osteoporotic drugs, excessive vitamin D or calcium supplementation, lithium, corticosteroid therapy, phosphorus intake). Once these factors have been eliminated, hypercalcemia with hypocalciuria should suggest a genetic cause. Hypercalcemia with non-elevated PTH may be secondary to neoplasm, hypervitaminosis D (excessive intake, production or catabolism), immobilization or endocrine causes. Elevated PTH values without hypercalcemia must be differentiated from normo-calcemic hyperparathyroidism. High PTH levels are found in PTH-resistant patients, as well as in hypophosphatemic (especially X-linked) or hypercalciuric tubulopathies (certain rare diseases, immobilization, loop diuretics or idiopathic causes favored by a metabolic syndrome). Radiologically, brown tumor must be differentiated primarily from bone metastasis, chondrosarcoma and giant cell tumor.

Enhanced glucose processing in gestational diabetes diagnosis: Effects on health equity and clinical outcomes.

Gestational diabetes is diagnosed using an oral glucose tolerance test (OGTT), which has limited accuracy, reproducibility and practicality. We assessed the effect of enhanced pre-analytical glucose processing upon glucose concentrations, gestational diabetes diagnosis, health equity and pregnancy outcomes, and if HbA1c was a suitable alternative. We recruited pregnant women with ≥1 risk factor to a prospective observational cohort study of pregnancy hyperglycaemia, endocrine causes, lipids, insulin and autoimmunity (OPHELIA), from nine UK centres. During a 75 g antenatal OGTT (National Institute of Health and Care Excellence criteria), standard glucose processing was compared to enhanced glucose processing (storage on ice, rapid centrifugation, aliquoting and freezing <2.5 h). We recruited 1308 participants of mean (SD) age 31.5 years (5.0) and BMI 33.0 kg/m2 (6.8) of 82.5% white ethnicity, representative of the UK population. Enhanced glucose processing resulted in glucose levels ~0.6 mmol/L higher than standard glucose processing, increasing gestational diabetes diagnosis from 9% to 22%. Women with gestational diabetes on enhanced but not standard glucose processing (n = 165) were younger (31.9 vs. 33.2 years, p = 0.035), with a higher BMI (36.5 vs. 33.9 kg/m2; p = 0.003), different ethnic distribution (p = 0.025) and delivered more large-for-gestational age infants (37.0% vs. 22.3%; p = 0.006) compared to women with gestational diabetes on standard processing alone. HbA1c was not a suitable alternative predictor of gestational diabetes diagnosis (Area under receiver operator curve 0.74; 95% CI 0.68-0.79). An OGTT with enhanced glucose processing would support more accurate, equitable diagnosis of gestational diabetes, but with increased diagnosis rates.

An Evidence-Based Case Series of Male Infertility (OAT Syndrome Associated with Hypospermia) Treated with Constitutional Medicine

AbstractA major clinical problem that still affects 8 to 12% of couples globally, infertility and issues with diminished fecundity have long been a cause for worry. Approximately 35% of the cases of infertility result from deficiencies associated with male factor and as many as 2% of all men will exhibit suboptimal sperm parameters. Medical therapy includes the treatment of reversible endocrine or infectious causes of subfertility that may cause a variety of adverse effects. This study aimed to highlight the importance of employing homoeopathic constitutional medicine in the cases, caused by suboptimal seminal parameters (oligospermia, asthenospermia, teratospermia associated with hypospermia) due to non-specific causes. In this study, three males who had a poor seminal parameter visited the outpatient clinic. Their cases were recorded, appraised and analysed according to homoeopathic principles and repertorised using a complete repertory. Finally, each case received a constitutional medicine for prescription. Causal attribution of changes in their condition to the homoeopathic treatment was assessed by Modified Naranjo Criteria for Homoeopathy (MONARCH) inventory score. After a couple of months of medical care, a second semen analysis of the patients was performed. The reports revealed the improvement in the seminal variables. At the end, the values obtained were according to the 2010 World Health Organization standards. The outcome of the case series supports the clinical potency of constitutional treatment in homoeopathy in idiopathic infertile men. In future, randomised control trials with large sample sizes may be undertaken for validation of results.

Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience

Introduction: Cholestasis in childhood is a rare clinical condition, yet a definitive diagnosis is crucial for initiating treatment of these curable diseases and preventing related morbidity and mortality. The most common cause of infant cholestasis is biliary atresia (25–40%), followed by monogenic cholestatic diseases (25%), metabolic diseases (20%), and cryptogenic cholestasis. This study focuses on assessing the clinical utility of next-generation sequencing (NGS) panels, including clinical exome sequencing and whole exome sequencing, in diagnosing cholestatic diseases when the etiology cannot be elucidated through conventional methods. Materials and Methods: We conducted a retrospective examination of pediatric patients who sought care at a single-center pediatric gastroenterology department between August 2020 and March 2022 and were diagnosed with cholestasis. A total of 36 patients underwent a thorough investigation to rule out infectious, toxic, metabolic, structural, chromosomal, and endocrine causes. Patients whose diagnoses were established through traditional investigations were excluded from the study. The remaining 14 patients underwent either whole exome sequencing or targeted NGS methods. Results: A definitive diagnosis was achieved for 12 patients, while 2 patients remained undiagnosed despite comprehensive genetic examinations. The most commonly encountered diseases in this cohort were progressive familial intrahepatic cholestasis, linked to mutations in the ABCB11, ATP8B1, and TJP2 genes, as well as Dubin-Johnson syndrome associated with ABCC2 mutations. NGS demonstrated a diagnostic accuracy of 85.7% in patients for whom a diagnosis could not be established through extensive traditional workup. Conclusion: NGS emerges as a valuable diagnostic tool in cases of cholestasis where traditional methods fall short in providing a definitive diagnosis. Moreover, our study unveiled three previously undocumented variants in the ABCB11 [c.1165G>C; p.(Ala389Pro) and c.783 + 1G>A] and ABCC2 [c.4246_4247del; p.(Lys1416ValfsTer46)] genes.

Neonatal hypoglycemia: A review with focus on practical challenges and recent updates on management

At birth, a neonate undergoes a transition from the continuous maternal supply of glucose to a variable and intermittent oral glucose intake, which is regulated by the interplay of hormones and metabolic enzyme induction. Because low plasma glucose concentrations are common in the neonatal period, it may be difficult to identify those who have pathologic hypoglycemia. Hence, it is important to formally evaluate such babies by drawing critical samples. Here, we present two cases of neonatal hypoglycemia where the presentation had some similarities, but the comprehensive evaluation revealed a varied etiological spectrum necessitating lifelong management. Through these case studies, authors discuss practical challenges in the diagnosis, management, and follow-up of neonates with endocrine causes of hypoglycemia.

7787 Primary Aldosteronism Medical Treatment Outcomes (PAMO): An International Consensus on Outcome Assessment Criteria and Multicentre Study

Abstract Disclosure: J. Yang: None. J. Burrello: None. J. Goi: None. T.A. Williams: None. W.F. Young: Consulting Fee; Self; Arena Pharmaceuticals, Inc.. Other; Self; Crinetics Pharmaceuticals. P.J. Fuller: None. P. Investigators: None. Primary aldosteronism (PA) is the most common endocrine cause of hypertension. Mineralocorticoid receptor antagonists, at adequate doses, lower blood pressure and cardiovascular risk in patients with PA. However, there is a lack of a standardized approach to medical therapy and subsequent outcomes assessment. We aimed to: 1) establish criteria for assessing outcomes of targeted medical treatment of PA, and 2) evaluate outcomes using these criteria across an international cohort. A panel of 31 PA experts from 31 centres across four continents used the Delphi method, including three rounds of online questionnaires, to reach consensus. Clinical data were then collected from consecutive patients with PA who started targeted medical treatment between 2016 and 2021 at the participating centres. Consensus was reached for six outcomes, including complete, partial, or absent biochemical response, and complete, partial, or absent clinical response. “Complete biochemical response” was defined as “correction of hypokalemia without potassium supplementation, and normalization of plasma renin activity or concentration”; while “absent biochemical response” was defined as “persistent hypokalemia and/or persistently suppressed or low plasma renin activity or concentration without change from baseline”. “Complete clinical response” was defined as “normal blood pressure without additional antihypertensive medications”; while “absent clinical response” was defined as “the same or increased blood pressure compared to before targeted treatment with same or more antihypertensive medications, not counting targeted therapy”. Of 1483 patients (mean age 52y, 48% female) from 28 centers, 232 (16%) had a complete clinical response, and 719 (49%) had a complete biochemical response at the most recent follow-up (median 29 months after treatment initiation). Compared to those with partial or absent clinical response, patients with complete clinical response had a significantly higher proportion of women and lower proportion with diabetes, stroke or left ventricular hypertrophy. They also had a significantly shorter duration of hypertension, lower BMI, higher eGFR and lower defined daily dose of antihypertensives at baseline. In contrast, these differences were not observed in those with a complete, partial or absent biochemical response. The defined daily dose of targeted therapy did not differ across the various response categories. In conclusion, we have established an international expert consensus for standardized criteria to evaluate the response to targeted medical treatment of PA, facilitate comparisons of outcome data and guide clinicians who manage PA. In a retrospective international cohort, less than half of medically-treated patients reached the established biochemical treatment targets. Further work is needed to increase the rate of complete response. Presentation: 6/3/2024

Genetic testing for familial hyperaldosteronism type 1 in Aotearoa/New Zealand.

Primary aldosteronism (PA) is the most common secondary endocrine cause of hypertension with familial hyperaldosteronism type 1 (FH-1), a rare heritable subtype. Timely identification of FH-1 is important because of an increased risk of vascular events in affected individuals and because it provides the opportunity to guide appropriate treatment. Genetic testing is recommended if onset is at a young age (<20 years), there is a family history of PA or early cerebrovascular events occur. To assess national rates of testing for FH-1, whether this varied over time and by region. De-identified data were obtained on genetic testing performed for FH-1 from 1 April 2010 to 30 October 2023 (163 months) from the Canterbury Health Laboratories database, the sole national testing laboratory for FH-1. A total of 147 tests were performed, of which 19 (12.9%) were positive. Eleven of the positive tests were requested by one region. Testing rates varied from 0.00 to 0.63 per 100 000 people per annum. Most tests were requested by endocrinology services. Testing increased over time from an average of 4.6 tests per annum in the first 5 years of the period studied to 17.7 tests in the most recent 5 years. Limitations include lack of ethnicity data, information on testing indications and testing rates for other familial PA subtypes. Testing for FH-1 has increased over time but remains low. Testing for familial forms of PA should be considered in those in whom PA was diagnosed at a young age or with a suggestive family history.

The Value of Mandibular Indices on Cone Beam Computed Tomography in Secondary Causes of Low Bone Mass.

Background: As implant treatment cases increase, many cases of failure/side effects also occur. Generally, dental clinics determine the density of the jawbone using cone beam CT (CBCT). Considering the known potential role of this tool for bone assessment in primary osteoporosis, this study evaluated patients with secondary endocrine causes of low bone mass. Methods: The study included 83 patients with endocrine causes of osteoporosis who were evaluated by dual-energy X-ray absorptiometry (DXA), trabecular bone score (TBS), and mental foramen (MF) region CBCT. The following CBCT indices were measured: anterior (A)-thickness of inferior mandibular cortex 10 mm anterior from MF; molar (M)-thickness of inferior mandibular cortex 10 mm posterior from MF; posterior (P)-thickness of inferior mandibular cortex 25 mm posterior from MF; symphysis (S)-thickness of inferior mandibular cortex equidistant from the centers of right and left MF. Results: The highest correlation coefficient in the secondary causes group was between the A index and the lumbar BMD (r = 0.375, p = 0.001) and the P index and the femoral neck BMD (r = 0.38, p = 0.001). Hypercortisolism seems to be the most predictable cause of secondary osteoporosis using the A, M, and P indices. The A, M, and P indices showed predictive values of the bone micro-architecture that was evaluated using TBS score, and were statistically significant. The symphysis index does not significantly predict osteoporosis or impaired bone micro-architecture. Conclusions: These findings support the potential usefulness of A, M, and P CBCT-derived radiomorphometric mandibular indices in secondary osteoporosis, underlining the well-known effects of these pathologies on bone micro-architecture rather than bone quantity.

Patterns and unique features of infantile cholestasis among Arabs.

Most of the literature on infantile cholestasis (IC) originated from Caucasian and Asian populations. The differential diagnosis of IC is very broad, and identification of etiology is challenging to clinicians because the list includes many entities with overlapping clinical, biochemical, and histological features. Thus, a structured, stepwise diagnostic approach is required to help early recognition and prompt evaluation and management of treatable causes of cholestasis. (1) To determine the differential diagnosis of IC among Saudi population and (2) to evaluate the usefulness of a diagnostic algorithm that has been tailored by the authors to the local practice. All infants with onset of cholestasis before 12 months of age (2007 and 2020) were identified and included if they underwent extensive work up to exclude infectious, structural, metabolic, endocrine, infiltrative, and familial causes. Our diagnostic pathway allowed a definite diagnosis in 373 of the included 533 cases; 160 (30%) were labelled as "idiopathic neonatal hepatitis" (INH) [i.e., overall 70% detection rate]. However, when considering the cases that underwent extensive investigations including advanced gene testing (415 of the 533), the yield of the diagnostic algorithm was 90% (373/415). Familial cholestasis group was the most common in 20% (107/533), and biliary atresia and neonatal-onset Dubin Johnson syndrome contributed to 6% each. The genetic/hereditary causes of cholestasis contributed to 58% of the diagnosed cases (217/373). No single case of alpha-1 antitrypsin deficiency was diagnosed. Forty-nine infants with cholestasis presented with liver failure (9%). Our study highlights several unique features and causes of IC among Arabs which could have a great impact on the differential diagnosis process and the choice of laboratory tests used in the clinical setting.

Challenges in Diagnosing and Managing the Spectrum of Primary Aldosteronism.

Primary aldosteronism, characterized by the dysregulated production of aldosterone from 1 or both adrenal glands, is the most common endocrine cause of hypertension. It confers a high risk of cardiovascular, renal, and metabolic complications that can be ameliorated with targeted medical therapy or surgery. Diagnosis can be achieved with a positive screening test (elevated aldosterone to renin ratio) followed by confirmatory testing (saline, captopril, fludrocortisone, or oral salt challenges) and subtyping (adrenal imaging and adrenal vein sampling). However, the diagnostic pathway may be complicated by interfering medications, intraindividual variations, and concurrent autonomous cortisol secretion. Furthermore, once diagnosed, careful follow-up is needed to ensure that treatment targets are reached and adverse effects, or even recurrence, are promptly addressed. These challenges will be illustrated in a series of case studies drawn from our endocrine hypertension clinic. We will offer guidance on strategies to facilitate an accurate and timely diagnosis of primary aldosteronism together with a discussion of treatment targets which should be achieved for optimal patient outcomes.

Using the brain to heal the heart: A case discussion and review of panhypopituitarism-induced chronic heart and kidney failure

In this paper, we present a detailed case study from our transplant evaluation clinic, focusing on a postpartum patient with end-stage heart and kidney failure being considered for heart transplantation. The evaluation revealed pituitary dysfunction, correlating with Sheehan syndrome, a condition arising from significant blood loss that leads to pituitary gland hypoperfusion and necrosis. This diagnosis is particularly noteworthy considering the pituitary gland's vital role in hormonal regulation, which impacts multiple organ systems. The gland's vulnerability to ischemia, especially due to its enlargement during pregnancy, is a critical factor. Our case highlights the necessity of thorough pre-transplant evaluations to identify reversible endocrine factors contributing to organ failure, emphasizing the complex interplay between endocrine health and organ transplant suitability. This study serves as an important reminder for clinicians to consider endocrine causes in transplant candidates, especially in postpartum patients.

Clinical presentation and comorbidities in hyponatremia: a key to the diagnosis of endocrine cause

Clinical presentation and comorbidities in hyponatremia: a key to the diagnosis of endocrine cause

Risk of mortality and cause of death according to kidney function parameters: a nationwide observational study in Korea.

Further study is warranted to determine the association between estimated glomerular filtration rate (eGFR) or albuminuria and the risk of death from diverse causes. We screened &gt;10 million general health screening examinees who received health examinations conducted in 2009 using the claims database of Korea. After the exclusion of those previously diagnosed with renal failure and those with missing data, 9,917,838 individuals with available baseline kidney function measurements were included. The primary outcome was mortality and cause-specific death between 2009 and 2019 identified through death certificates based on the diagnostic codes of International Classification of Diseases, 10th revision. Multivariable Cox regression analysis adjusted for various clinicodemographic and social characteristics was used to assess mortality risk. The hazard ratio of death was significantly high in both the eGFR &lt;60 mL/min/1.73 m2 and in the eGFR ≥120 mL/ min/1.73 m2 groups in univariable and multivariable regression analyses when compared to those within the reference range (eGFR of 90-120 mL/min/1.73 m2). The results were similar for death by cardiovascular, cancer, infection, endocrine, respiratory, and digestive causes. We also found that albuminuria was associated with higher risk of death regardless of eGFR range, and those in the higher categories of dipstick albuminuria showed higher risk. We reconfirmed the significant association between eGFR, albuminuria, and mortality. Healthcare providers should keep in mind that albuminuria and decreased eGFR as well as kidney hyperfiltration are independent predictors of mortality.

Laboratory Testing for Endocrine Hypertension: Current and Future Perspectives.

Secondary hypertension (SH) is a form of high blood pressure caused by an identifiable underlying condition. Although, it accounts for a small fraction of the overall hypertensive population, detection and management of SH is of utmost importance, because SH phenotypes carry a high cardiovascular risk and can possibly be cured by timely treatment. This review focuses on the endocrine causes of SH, such as primary aldosteronism, Cushing syndrome, thyroid disease, pheochromocytoma and paraganglioma, acromegaly, and rare monogenic forms. It discusses current biomarkers, analytical methods, and diagnostic strategies, highlighting advantages and limitations of each approach. It also explores the emerging -omics technologies that can provide a comprehensive and multidimensional assessment of SH and its underlying mechanisms. Endocrine SH is a heterogeneous and complex condition that requires proper screening and confirmatory tests to avoid diagnostic delays and improve patient outcomes. Careful biomarker interpretation is essential due to potential interferences, variability, and method-dependent differences. Liquid chromatography-tandem mass spectrometry is a superior method for measuring low-concentration hormones and metabolites involved in SH, but it requires expertise. Omics approaches have great potential to identify novel biomarkers, pathways, and targets for SH diagnosis and treatment, especially considering its multifactorial nature.

(341) First-time Orgasm in a Man with Flibanserin Use: A Case Report

Abstract Introduction Anorgasmia is a poorly understood phenomenon defined as either a lifelong or an acquired consistent inability to achieve ejaculation. Despite the prevalence of anorgasmia, there is currently no established treatment. Objective In this abstract, we present the unique case of a patient with lifelong anorgasmia who was able to achieve his first orgasm with off-label use of flibanserin. Methods A 28-year-old male presented to our office with complaints of lifelong anejaculation and anorgasmia, without any signs of erectile dysfunction. He reported good libido and energy levels and denied any urinary symptoms or history of depression. Physical examination revealed normal genital anatomy without lesions. Testicular size was within normal limits, and a palpable varicocele was noted. Hormonal evaluations revealed total testosterone levels of 590 ng/dl and prolactin levels of 12 ng/ml. The baseline International Index of Erectile Function (IIEF) score was 41, with an orgasmic function sub-domain (IIEF-OF) score of 2. The patient had no history of major surgeries. He denied any neurological, infectious, or endocrine cause of anejaculation or anorgasmia. He was not taking medications that could cause these symptoms, except for over-the-counter allergy medications. Upon further questioning, the patient equated orgasm with ejaculation and reported having never experienced any previous orgasms. Results The patient was prescribed 150 mg of bupropion daily, which was increased to 300 mg daily after two weeks, in combination with sex therapy. Despite having received four–five sex therapy sessions over three months, the patient reported that this treatment approach was not effective. Subsequently, bupropion was tapered and discontinued. The patient was then started on bremelanotide, administered at a dose of 10 mg/mL, injecting 0.2mL (2 mg) before sexual activity. Although various forms of stimulation were attempted, the patient was unable to achieve orgasm with bremelanotide, and experienced penile pain. Flibanserin was then initiated, and after 28-32 doses over four weeks, the patient achieved his first orgasm. Notably, the patient also experienced nocturia and insomnia after initiating this medication. The follow-up IIEF score marginally improved by two points without any improvement in IIEF-OF. Conclusions This case highlights the challenges in managing anorgasmia and anejaculation in a young male patient. A stepwise approach, involving pharmacotherapy and sex therapy, was unsuccessful. However, off-label use of flibanserin ultimately resulted in the patient achieving his first orgasm, albeit with some side effects. Further studies are required to evaluate the efficacy and safety of flibanserin for this indication. Disclosure Any of the authors act as a consultant, employee or shareholder of an industry for: Consultant for AbbVie, Marius, Tolmar, Endo, Petros, Boston Scientific, Coloplast Investor: Sprout.

The Comparative Effects of Myo-Inositol and Metformin Therapy on the Clinical and Biochemical Parameters of Women of Normal Weight Suffering from Polycystic Ovary Syndrome.

Polycystic ovary syndrome (PCOS) is a multisystem reproductive-metabolic disorder and the most common endocrine cause of infertility. The objective of our study was to determine the influence of myo-inositol (MI) on insulin resistance (IR), menstrual cycle regularity, and hyperandrogenism in women suffering from PCOS with normal BMI and diagnosed IR. We performed a prospective randomized controlled trial (RCT) that included 60 participants with PCOS who had IR and a normal BMI. Two groups were formed. A group of thirty patients received MI, and thirty patients in the control group received metformin (MET). A statistically significant reduction in the area under the curve (AUC) of insulin values during the oral glucose tolerance test (OGTT) was recorded in both examined groups after the applied therapy with MI and MET. The regularity of the menstrual cycle in both groups was improved in >90% of patients. A statistically significant decrease in androgenic hormones (testosterone, SHBG, free androgen index-FAI, androstenedione) was recorded in both groups and did not differ between the groups. Both MI and MET can be considered very effective in the regulation of IR, menstrual cycle irregularities, and hyperandrogenism in women with PCOS.

Update on Primary Aldosteronism: Time to Screen All Hypertensives.

Primary aldosteronism (PA), characterized by autonomous renin-independent aldosterone production, is the most common endocrine cause of hypertension.1 PA was initially considered a rare cause of secondary hypertension, as experts described 0.451% prevalence in mild to moderate hypertension when hypokalemia was an essential reason for screening.1 However, recent data suggests that PA may be present even in patients with normokalemia, and 515% of patients in the hypertensive cohort have underlying overt PA.2.

Appraisal of Modified Tests for Diagnosis and Treatment of Primary Aldosteronism: A Single Center Experience

Introduction: Primary aldosteronism (PA), the most common endocrine cause of secondary hypertension, is generally under diagnosed using current diagnostic tests. Objective: To present our findings, based on studies using modified diagnostic tests, on the diagnosis, prevalence and treatment of PA. Design and Methods: We prospectively studied 992 hypertensive patients and 278 matched controls. Participants underwent conventional confirmatory tests for the diagnosis of PA modified by the addition of dexamethasone including the Fludrocortisone Dexamethasone Suppression Test (FDST), the Dexamethasone Captopril Valsartan Test (DCVT) and the Dexamethasone Saline Infusion Test (DSIT). Normal cut-offs of basal aldosterone-to-renin ratio and post-test (FDST, DCVT and DSIT) aldosterone levels and aldosterone-to-renin ratio were calculated from the control groups, who had normal adrenal imaging. Results: Hypertensive patients had significantly higher baseline blood pressure and lower serum potassium levels compared to controls. Using the basal aldosterone-to-renin ratio as screening test, the prevalence of PA was 17.8%. After applying the modified tests to all patients, the prevalence of PA was 33.4%. Targeted treatment with Mineralocorticoid Receptor Antagonists was administered in 252 hypertensives, with bilateral PA; 188 (74.6%) of them obtained a biochemical response and normalization of blood pressure. Unilateral disease had 48 patients who underwent laparoscopic adrenalectomy obtaining a biochemical success rate was 94%. Conclusion: Our modified methodology and the use of normotensive controls for calculation of normal cut-offs of aldosterone suppression, significantly improves the sensitivity and specificity of the existing tests on the diagnosis of PA, allowing the detection of milder forms.

Lean Metabolic Syndrome vis-à-vis Obese Metabolic Syndrome: Observations from an Eastern Indian Tertiary Set-up

Background: Metabolic syndrome (MetS) in obese is a fairly common entity. However, excluding the waist circumference (WC) criteria, other components of the MetS are also seen in lean or nonobese people. Our study aimed to determine the prevalence of lean MetS among newly diagnosed MetS cases and compare the biochemical parameters and insulin resistance in lean versus overweight/obese MetS. Methods: A cross-sectional, observational study was conducted over 12 months and included adult patients of either sex, newly diagnosed with MetS. Fever cases, infections such as tuberculosis/HIV/chronic infectious disease, chronic inflammatory diseases, those having endocrine causes of obesity such as Cushing syndrome, known cases of ischemic heart disease, and those on antiobesity medications were excluded. Diagnosed MetS patients were categorized as lean or obese based on the standard criteria. A convenient sample of 50 was considered for either group (lean MetS vs. obese MetS). Included patients were investigated for lipid, liver, glycemic, and insulin resistance profiles. Other parameters included serum uric acid, thyroid function, whole abdomen ultrasound, electrocardiography, two-dimensional echocardiography (ECHO), fibroscan, and polysomnography for obstructive sleep apnea (OSA). Results: The prevalence of lean MetS was 9.87%. Variables such as body mass index, WC, low-density lipoprotein, and systolic blood pressure were significantly higher in the obese MetS in comparison to the lean MetS group. Fasting insulin was also significantly higher in the obese MetS compared to lean MetS. Biochemical measures such as aspartate aminotransferase and alanine transferase were significantly higher for the obese MetS, while the change was nonsignificant for other biochemical measures. Except for complications such as polycystic ovary syndrome, acanthoses nigricans, and gallstones which were significantly higher in the obese MetS group, the rest of the complications were similar in both groups. Conclusion: MetS among nonobese or lean subjects differs in certain aspects from those with obesity. As lean MetS is an emerging entity, clinicians must be aware of it to avoid morbidity.

Improving diagnosis of primary aldosteronism through education: a modified Delphi study to identify key learning points.

Primary aldosteronism (PA) is the most common endocrine cause of secondary hypertension and can be effectively managed, or even cured, with targeted treatment. Despite this, it remains largely undiagnosed leaving a significant patient population with resistant hypertension and modifiable cardiovascular risk. To determine expert consensus on key information about PA that should ideally be taught to medical students as a step toward improving the detection of this common, underdiagnosed, and often easily treated condition. The study employed a modified Delphi method which consisted of three rounds, the first of which contained an open-ended question about key areas that experts believe to be most important for inclusion in medical teaching resources and then progressing to assessment of individual versus group rankings of consensus items. Experts included both clinician-educator-researchers and patients with lived experience. Nine critical knowledge areas in epidemiology, diagnostics, and pathophysiology were identified by the Delphi as consensus items, with the highest ranked being: "PA is common but often under-diagnosed - think about it with every hypertensive patient." Experts reached a consensus, for the first time, on nine critical knowledge areas about PA that should be covered in medical education. Importantly, the consensus accounted for patients' values and decisions. The results of this study could be used to assess medical student knowledge and their learning resources to facilitate curriculum development and medical resource updates to ensure the timely and accurate diagnosis of PA in hypertensive patients.