Acromegaly is commonly associated with cardiomyopathy due to chronic overproduction of growth hormone (GH) and insulin-like growth factor 1 (IGF-1), leading to biventricular hypertrophy, diastolic dysfunction, and in advanced cases, systolic dysfunction and heart failure. This case report presents a 42-year-old male diagnosed with acromegaly, who underwent successful resection of a pituitary macroadenoma. At diagnosis, GH was 12.0 [ng/mL] and IGF-1 was 670 [ng/mL] (age-adjusted ULN: 218). An oral glucose tolerance test was performed; GH failed to suppress below 7.20 [ng/mL]. Despite surgical intervention, the patient experienced persistent cardiac symptoms including exertional dyspnea and breathlessness, which prompted further cardiovascular evaluation. Cardiac examinations revealed significant hypertrophy of the interventricular septum and the left ventricular anterior wall, findings confirmed by echocardiography and cardiac magnetic resonance. Remarkably, genetic analysis identified a heterozygous mutation in the MYBPC3 gene, known to cause hypertrophic cardiomyopathy. This mutation likely exacerbated the patient's cardiac condition, suggesting a compounded effect of acromegaly and a genetic predisposition to cardiomyopathy. This case underscores the importance of considering genetic factors in acromegalic patients presenting with cardiomyopathy to tailor personalized management strategies. Further research is warranted to explore the interplay between hormonal excess and genetic mutations in cardiomyopathy development.
Idiopathic infantile hypercalcemia (IIH) is a rare, parathyroid hormone (PTH)-independent disorder of calcium metabolism. It is most often caused by mutations in the CYP24A1 gene that impair vitamin D catabolism. We report a 70-year-old male with persistent hypercalcemia (Ca 13.2 mg/dL) and low-normal PTH levels. Extensive evaluation excluded malignancy, granulomatous disease, and vitamin D intoxication. Genetic analysis revealed a homozygous CYP24A1 variant (c.233G>T; p.Gly78Val), consistent with CYP24A1 deficiency. Bisphosphonate therapy with zoledronic acid rapidly and sustainably normalized calcium levels for 10 months. The patient's daughter was a heterozygous carrier. This confirmed autosomal-recessive inheritance. This case illustrates an atypical late-onset presentation of CYP24A1 deficiency. It emphasizes the importance of considering this diagnosis in adults with PTH-independent hypercalcemia, especially when seasonal variation and family history are present. Recognition of CYP24A1 deficiency at all ages highlights the need for genotype-based terminology rather than the misleading label "infantile" hypercalcemia.
Context:Accurate diagnosis of adrenal insufficiency (AI) is crucial to prevent potentially life-threatening complications. Early-morning basal serum cortisol is widely used to guide further testing, its diagnostic performance varies across clinical settings. Objective:To evaluate the diagnostic performance of early-morning basal cortisol in patients referred for ACTH stimulation testing and to determine whether basal cortisol alone can reliably exclude AI. Design and Methods:This retrospective cohort study included 404 adult outpatients (mean age 45.3 years; 18.8% male) who underwent standard-dose ACTH (250 µg) stimulation testing between 2018 and 2022. All consecutive patients with available early-morning basal cortisol measurements were included. AI was defined as a peak cortisol response <18 µg/dL (≈497 nmol/L). Diagnostic performance was assessed using logistic regression and receiver operating characteristic (ROC) analyses. Results:AI was diagnosed in 27 patients (6.7%). Basal cortisol levels were inversely associated with ACTH test failure and demonstrated moderate discriminatory ability (AUC = 0.85). Despite higher basal cortisol being associated with lower AI probability, a small proportion of patients within clinically relevant cortisol ranges still failed stimulation testing. Conclusion:Early-morning basal cortisol provides valuable diagnostic information but cannot reliably exclude adrenal insufficiency when used alone. Confirmatory dynamic testing remains necessary to ensure diagnostic safety.
Context:Postoperative hypoparathyroidism is the most frequent complication of total thyroidectomy (transient form, 19-38%). Indocyanine green (ICG) fluorescence imaging is validated for parathyroid perfusion assessment; its predictive value combined with strict in situ preservation has not been reported in Romania. Objective:To evaluate the predictive performance of the Vidal Fortuny ICG score for transient postoperative hypoparathyroidism. Design:Prospective observational single-centre study (February 2024 - February 2025) at the National Institute of Endocrinology "C.I. Parhon", Bucharest. Subjects and methods:Twenty-four consecutive adults received intraoperative ICG (5 mg IV; Karl Storz IMAGE1 S™ Rubina®) during thyroid surgery. Each parathyroid gland (PG) was assigned an ICG score (0/1/2) and a signal-to-background ratio versus the common carotid artery. Primary endpoint: biochemical hypoparathyroidism at 24 hours (PTH < 15 pg/mL or total Ca < 8.0 mg/dL). Results:Twenty-one women and 3 men; mean age 55.2 ± 14.1 years. All four PGs were identified in every patient (96/96, 100%). Score distribution (score 2/ 1/ 0): 63.5%/ 32.3%/ 4.2%. Transient hypoparathyroidism: 25.0%; dysphonia at 6 weeks: 0%. Sensitivity 66.7%, specificity 100%, PPV 100%, NPV 90%; LR- 0.33 (LR+ undefined: specificity 100%). Conclusions:As an adjunct to careful anatomical dissection, the ICG score reliably identifies devascularized parathyroid glands (specificity and PPV both 100%). In situ preservation without autotransplantation was safe. ICG complements anatomical dissection and warrants routine integration.
Aim:This study examines the impact of liraglutide on bone turnover markers and bone mineral density (BMD) in individuals diagnosed with type 2 diabetes mellitus (T2DM). Patients and methods:A randomized controlled trial included 100 participants who were assigned to receive either liraglutide in combination with metformin (n=50) or metformin alone (n=50) for a duration of 48 weeks. Results:Analysis revealed statistically significant improvements in metabolic parameters, including glucose and lipid metabolism, in the liraglutide group compared to controls (P < 0.001). Notably, male participants exhibited enhanced bone turnover markers, evidenced by increases in N-terminal mid-region osteocalcin (N-MID) and total type I collagen amino-terminal propeptide (TPINP), alongside decreases in the C-terminal telopeptide of type I collagen (β-CTX). Conversely, female participants did not demonstrate significant changes in these markers. Additionally, liraglutide effectively mitigated BMD loss observed at the femoral neck and lumbar spine in the treatment group. These findings underscore liraglutide's potential benefits in metabolic regulation and its role in supporting bone health, particularly in male patients. Further research is essential to conclusively define these effects and elucidate the underlying mechanisms.
