Growth hormone deficiency (GHD) is a rare endocrine disorder affecting both children and adults that may occur in isolation or as part of multihormonal hypopituitarism. Recombinant human growth hormone (GH) administered as daily injections has long been the standard of care and improves growth, body composition and quality of life. However, daily administration is associated with a substantial treatment burden and adherence is frequently suboptimal, particularly in children and adolescents.Long-acting growth hormone (LAGH) formulations have been developed to reduce injection frequency and potentially support long-term adherence. Three once-weekly LAGH products are currently available in the EU: lonapegsomatropin, somatrogon and somapacitan. Clinical trials have demonstrated non-inferiority of LAGHs compared with daily GH in children in terms of annualised height velocity. Safety profiles were consistent with those of daily GH.This review summarises the clinical evidence for LAGH formulations, including patient preference and the impact on metabolism, bone health and muscle strength. With a focus on somapacitan, currently the only LAGH approved in France for both children and adults, the review discusses practical aspects of dosing and monitoring across age groups and addresses use in special populations and during the transition period from paediatric to adult care. Ongoing follow-up and real-world studies will further clarify long-term safety, adherence and metabolic outcomes.
This article, presenting three clinical cases, discusses the analytical issues of testosterone measurement in blood (immunoassay and liquid chromatography and mass spectrometry). It also describes the different circulating testosterone fractions (total, free and bioavailable) and how to measure or calculate them.Beyond these analytical aspects, the article addresses the challenges encountered in establishing reference ranges and the specific difficulties related to different patient populations: men, women and children. Finally, in light of the evidence outlined in the article, we review the three cases.
BACKGROUND:Patients with type 2 diabetes mellitus (T2DM) and atherosclerotic cardiovascular disease (ASCVD) are at high risk of stroke and transient ischemic attack (TIA), yet many remain undertreated with cardioprotective therapies. We assessed stroke risk, its predictors, and the impact of sodium-glucose cotransporter-2 inhibitors (SGLT2-I) and glucagon-like peptide-1 receptor agonists (GLP-1RA). METHODS:The nationwide CARdiovascular and DIABetes (CARDIAB) cohort included patients with T2DM and ASCVD. Stroke predictors and associations between SGLT2-I andGLP-1RA use and outcomes were evaluated. RESULTS:A total of 138,397 patients (60% male; median age 72 years) were followed for a median of 5.5 years. Overall, 28,676 patients (20.7%) experienced stroke or TIA. Higher risk was associated with smoking, prior stroke or TIA, chronic kidney disease, older age, male sex, and Arab ethnicity. Follow-up in cardiology or endocrinology clinics and treatment with aspirin, statins, SGLT2-I, and GLP-1RA were protective. Patients treated with both SGLT2-I and GLP-1RA had the lowest event rates (361 per 10,000 patient-years), corresponding to a 22% relative risk reduction (HR 0.78; 95% CI, 0.75-0.81). CONCLUSION:Patients with T2DM and ASCVD face a markedly elevated stroke risk. SGLT2-I and GLP-1RA use was associated with significant risk reduction, particularly when combined. Greater uptake of these therapies and comprehensive risk factor management are needed to mitigate stroke burden in this high-risk group.
Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive disorder. While salt-wasting forms are detected early, simple virilizing forms may remain occult until adulthood. We report two atypical cases of 21-hydroxylase deficiency revealed by adrenal incidentaloma (AI). Case 1, a 71-year-old male, presented a hypermetabolic left adrenal mass on 18FDG-PET/CT. Case 2, a 53-year-old male, showed bilateral AI on renal colic evaluation. Both patients showed significantly elevated basal 17-hydroxyprogesterone (17-OHP) and were confirmed as compound heterozygotes for CYP21A2 pathogenic variants. These cases highlight how chronic ACTH elevation in unrecognized CAH can promote adrenal nodulogenesis. Systematic 17-OHP screening in bilateral AI and hypermetabolic adrenal nodules, combined with genetic analysis, is essential for identifying late-onset classical 21-hydroxylase deficiency and preventing associated cardiometabolic and skeletal complications.
