ACTA ENDOCRINOLOGICA (BUC)

Aim. We investigated the relationship between irisin concentrations and glycemic control, body composition and anthropometric measures in children with type 1 diabetes mellitus. Methods. The study involved 40 subjects with T1DM prospectively. Glycemic control was evaluated. Body composition was analyzed with a bioimpedance analyzer (BIA). Serum irisin concentrations were measured using an ELISA kit. Results. Irisin levels were found higher in BMI <17 kg/m2 group (p=0.002) compared to BMI >17 kg/m2. Irisin level was negatively correlated with weight, height, BMI, fat free mass, skeletelal muscle mass, basal metabolic rate (r= -0.40, p= 0.011; r=-0.32, p=0.046; r=-0.366, p= 0.022; r=-0.423, p= 0.007; r=-0.430, p=0.006; r=-0.416, p=0.009, respectively); there was a strong correlation between LDL-C and irisin levels (r=0.367, p=0.02). In multivariate linear regression analyses model, irisin concentrations were correlated with weight (ß-coefficient= - 0.391, p= 0.015). LDL-C is associated, but not correlated significantly with irisin levels, (ß-coefficient =0.272, p=0.084). Conclusion. As a result, weight and LDL-C were the predictors of circulating irisin. To our knowledge, this study is the first examining association between irisin levels and body composition comprehensively, in children with type 1 diabetes mellitus.

Context. 49,XXXXY syndrome is an aneuploidy that affects males and is commonly referred to as a variant of Klinefelter Syndrome. It presents a frequency of 1:85,000 to 100,000 births and an etiology related to non-disjunction of homologous chromosomes. Findings include skeletal abnormalities, hypogonadism, and cognitive impairment. Turner syndrome is also an aneuploidy of the sex chromosomes, which affects women, and has a prevalence of 1:2000 to 2500 births and a phenotype characterized by short stature and sexual infantilism. Objective. The objective of this article was to study the literature, investigate the family members and report the case. Subjects and Methods. Data collection was based on medical records, family history, karyotype analysis, and FISH analysis. Results. The karyotype of the proband revealed mos 49, XXXXY[45]/46, XY[5]. The patient's mother is affected by mosaic Turner Syndrome low level and the maternal grandmother by inversion of chromosome 9. The father, the younger brother, and the paternal grandmother present variations in the normality of their chromosomes. Conclusions. It is important to highlight that the early diagnosis of the syndrome and the initiation of therapy reduce biopsychosocial impairment. Investigation of other family members makes genetic counseling more effective.

The study comments unusual associations between thyroid and cutaneous autoimmunity: Graves-Basedow disease (GBD), vitiligo and alopecia areata (AA) starting from two cases. In the first case, a woman with systemic lupus erythematosus (SLE), data were recorded from 38 to 49 years as follows: vitiligo (at 38 ys), alopecia areata (4-6 months afterwards), SLE (after 2 ys) and then GBD (after 8 ys). After 3 years, hyperthyroidism has spontaneously vanished, but vitiligo, AA, leucothrichia, SLE, goiter and ophthalmopathy persisted. In the second case, a man, data were recorded from 26 to 70 years and the disease was associated with psoriasis. The sequence of diseases was: vitiligo (at 26 ys), AA and GBD (after 8 ys), followed by iatrogenic 131I hypothyroidism, and psoriasis (after 33 ys). Vitiligo and AA have spontaneously vanished before GBD began. These multiple immune syndrome associations bring up the question: ?Are these diseases multiple associations or a unique immune disease?? A possible point of view, related to immune network, suggests that these multiple associations represent in fact only one process, therefore they represent not many diseases, but different expressions in time (sequence) and space (organ-lesion) of the disease of the immune network.

Context. MicroRNAs (miRNAs) are short noncoding RNAs involved in posttranscriptional regulation of gene expression that influence various cellular functions including glucose and lipid metabolism and adipocyte differentiation. Objective. The aim of this study was to evaluate the levels of miR-34a and miR-149 and their relationship with metabolic parameters in obese children and adolescents. Design. Seventy children and adolescents were enrolled in the study. Plasma levels of microRNAs were evaluated by real-time PCR using SYBR green and analyzed by ΔCt method. Plasma concentrations of visfatin and insulin were measured by ELISA method. Glucose and lipid profile were determined colorimetrically. HOMA-IR was calculated and used as an index of insulin resistance (IR). Results. miR-34a was significantly lower in subjects with insulin resistance compared to obese children with normal insulin sensitivity. There was an inverse relationship between miR-34a levels and both insulin and HOMA-IR. On the other hand, miR-149 was significantly correlated with visfatin. There was no significant difference in miR-34a and miR-149 between obese and normal weight subjects. Conclusions. miR-34a is associated with insulin and HOMA-IR and thus seems to be involved in IR. miR- 149 is inversely associated with visfatin levels which could be indicative of anti-inflammatory effect of this miRNA.

Context. Accurate diagnosis of adrenal insufficiency (AI) is crucial to prevent potentially lifethreatening 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.

Background. Growth hormone (GH) therapy is widely used for pediatric growth disorders, with short-acting (Saizen) and long-acting (Jintropin) formulations available. This study assesses height, weight, and bone age outcomes in children treated with Jintropin, Saizen, or a combination of both. Methods. This retrospective cohort study (N=108) compared Jintropin (n=31), Saizen (n=50), and Combination Therapy (n=27). To control for baseline heterogeneity (age, puberty) and repeated measures, analyses used ANCOVA and LMM. Post-hoc comparisons used Bonferroni correction. Safety was evaluated by ΔBA/ΔCA ratio. Results. Following multivariable LMM adjustment, the estimated marginal means for annualized GV were 9.30 cm/year (95% CI: 8.46–10.15) for Jintropin, 8.55 cm/year (95% CI: 7.90–9.20) for Saizen, and 9.56 cm/year (95% CI: 8.77–10.34) for Combination Therapy. Adjusted pairwise comparisons showed no significant efficacy differences between groups (Jintropin vs. Saizen: p=0.501; Combination vs. Saizen: p=0.160). Skeletal safety was confirmed across cohorts (ΔBA/ΔCA: 0.34, 0.46, 0.68), indicating no premature epiphyseal fusion. Conclusion. Long-acting Jintropin monotherapy provides growth outcomes comparable and non-inferior to daily Saizen, offering a convenient, effective alternative that reduces injection burden. The non-standard combination of long- and short-acting GH showed no statistically superior benefits, suggesting such complex regimens are unnecessary in clinical practice.

Granulomatous hypophysitis is a very rare inflammatory lesion of the pituitary gland. Its typical clinical presentation is as an expanding sellar mass mimicking an adenoma, making it difficult to confirm the disease without a histopathological examination. Furthermore, determining the underlying etiology is a significant diagnostic challenge for clinicians. Case Report. We report the case of a 42-year-old female who presented with a history of severe headache and a sellar mass on imaging; she was initially diagnosed with an invasive pituitary adenoma but received a final diagnosis of granulomatous hypophysitis. The differential diagnosis was focused on idiopathic granulomatous hypophysitis versus tuberculous hypophysitis. On the one hand, the patient did not present signs of active tuberculosis nor of a systemic disease, and the PCR for mycobacteria on the pituitary tissue was negative; therefore, a diagnosis of idiopathic granulomatous hypophysitis would be appropriate. However, because the patient was proceeding from an endemic zone of tuberculosis and her Mantoux and QuantiFERON tests were positive, tuberculous hypophysitis could not be totally excluded. Conclusions. This case highlights the difficulties of correctly diagnosing granulomatous hypophysitis, even postoperatively, and the need to be aware of this rare entity when evaluating a pituitary enlargement in order to provide the most appropriate treatment.

Context. Exercise and anabolic steroids are anticipated to promote fat mass reduction and so to decrease the number of comorbidities related to excessive weight. Objective. The aim of this study was to verify the influence of aerobic exercise and the use of steroids on the accumulation of adipose tissue and on the biochemical limitations of Wistar rats nourished by a hypercaloric diet. Methods. Forty, young male Wistar rats were split into four groups: obese control (n=10), obese under treatment (n=10), obese under aerobic exercise (n=10) and obese under aerobic exercise and treatment (n=10). All animals were fed with a hypercaloric diet and animals under treatment received intramuscular testosterone. Body (weight and visceral fat) and blood (lipidogram, glucose, and liver enzymes) parameters were assessed. Results. The group treated with aerobic exercise and testosterone revealed a reduction in body weight and visceral, perirenal, retroperitoneal and epididymal fats, accompanied by the blood levels of glucose, lactate, LDLcholesterol, HDL-cholesterol, and lactate dehydrogenase; following high-intensity physical activity. Conclusion. The results support the theory that the combination of steroids and physical activity reduces the side-effects of androgenic-anabolic hormones and conveys benefits to some constraints

Context. Epilepsy and osteoporosis are closely related. The detrimental effect on bone by older generation of antiepileptic drugs (AEDs) is well known, but newer AEDs can also cause a decline in bone health. Objective. To provide a review on the impact of AEDs on bone mineral density, fractures and bone turnover markers and to analyze the effect of bone active treatments in epileptic patients. Methods. Medline (PubMed) and EMBASE were searched for studies about AEDs and bone health. The PRISMA statement was used. Results. Chronic use of AEDs is associated with alterations in bone metabolism, low bone mineral density values, and increased risk of fractures. These effects appear to be more associated to the use of enzyme-inducing AEDs. Supplements with vitamin D and bone active treatments may have benefits in terms of bone mineral density gain and of mortality risk. More studies are required to determine the impact of non-enzyme-inducing AEDs on bone health and to gather useful information about the management of osteoporosis therapy in epileptic patients. Conclusion. Chronic AED use has a significant impact on bone health; it is therefore necessary to evaluate in such individuals the claim to vitamin D and calcium supplements and bone active treatments.

A 54 years old man, who had undergone a cystectomy and urinary diversion surgery 31 years previously, complained of progressive generalized bone pain, muscle weakness and walking abnormality for six months. Laboratory investigations revealed elevated alkaline phosphatase, high serum chloride level and metabolic acidosis. Osteomalacia was suspected due to clinical and laboratory findings. Osteomalacia due to hyperchloremic metabolic acidosis is a complication of urinary diversion. Regular monitoring of pH, chloride, bicarbonate, and calcium-phosphorus metabolism is therefore essential for early diagnosis and treatment.