ACTA ENDOCRINOLOGICA (BUC)

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.

Context. With the widespread use of neck ultrasound, parathyroid incidentaloma (PI) emerges as an additional opportunity for incidental detection of primary hyperparathyroidism (PHPT). Objective and design. This study aimed to investigate PHPT cases detected by PI and to compare them with other PHPT patients. A retrospective analysis of newly diagnosed PHPT patients between 2014 and 2020 was conducted in our hospital. Subjects and methods. The cohort of 124 subjects was divided in two groups: 22 (17.7%) PHPT patients detected by PI (PI PHPT group) and the rest of 102 PHPT patients (non-PI PHPT group). Overall, 21 PIs were discovered on ultrasound and one was found during thyroid surgery. Clinical features, work-up and management of two study groups were compared. Results. The PI PHPT group had lower ionized calcium at diagnosis (p=0.034), lower peak serum calcium during follow-up (p<0.01), less fractures (p=0.022) and was less likely to meet the international criteria for parathyroidectomy (p<0.01). Positive sestamibi scan (p=0.022) and confirmed concordant localization in at least two different parathyroid imaging techniques (p=0.033) were more likely in the PI PHPT group. The frequency of surgical management did not differ between groups. Conclusions. PHPT detected by PI is clinically relevant and mostly comparable to PHPT in other patients with some features that correspond more often to a mild disease. Higher rate of positive preoperative localization in PHPT detected by PI might encourage parathyroidectomy even without the international criteria met.

Calciphylaxis, also known as calcific uremic arteriolopathy (CUA), is usually observed in women and it is a serious complication of hyperparathyroidism secondary to chronic renal failure. CUA is characterized by ischemic tissue loss secondary to progressive vascular degeneration. Although it is rare, it may end up with sepsis and organ failure and can be fatal. Its pathogenesis is not fully understood, but it is thought that it occurs secondary to increased calcification activators such as oxidized LDL, TNF- α, calcitriol, fibronectin, collagen-I, and TGF-1α. The most effective treatment is managing underlying pathology and decreasing serum calcium and phosphorus levels. In this report, we aimed to present an end stage renal failure case with coexisting hyperparathyroidism, hyperthyroidism and calciphylaxis in whom cutaneous manifestations were healed 6 months after parathyroidectomy.

We describe one case of sellar and suprasellar chordoma found in a 44 year old female, with bitemporal hemianopsia and secondary amenorrhea, submitted to transfrontal surgery and telecobaltotherapy. Chordomas are slow growing neoplasms arising from notochordal remnants of the axial skeleton. The second most common site for chordomas, after the sacrococcygeal region, is the base of the skull. Skull base chordomas commonly result in cranial nerve deficits, such as blurred vision, facial weakness and swallowing difficulty. Occasionally, chordomas localized in the hypothalamic or pituitary region may lead to pituitary stalk disjunction, pituitary insufficiency and diabetes insipidus. Studies show that early diagnosis, combined with aggressive surgical resection, offers the best chance for long-term survival. Although optimal treatment consists of wide excision with adjuvant radiotherapy, skull base chordomas are rarely amenable to complete surgical removal. Traditionally, postoperative irradiation is delivered to doses of 6000-6500 cGy; however this approach controls the chordoma only for a few years. Prognosis depends on the histological grade of the tumor, atypical chordomas showing the lowest survival rate.

Background. Idiopathic hypercalciuria is a risk factor for nephrolithiasis. Both renal stones and hypercalciuria are associated with lower bone mineral density (BMD), but the relationship between these modifications is not completely understood. Aims. To evaluate some metabolic particularities possibly related to relapsing nephrolithiasis (RN) in young male patients. Methods. We performed a crosssectional study including a group of 30 young male patients with RN and a group of 30 healthy, age and BMI (body mass index) matched controls (CTR). We evaluated calcium and phosphate metabolism, bone remodeling markers alkaline phosphatase (AP) and osteocalcin in serum and 24-hour urine samples, and lumbar and hip BMD. Results. We observed higher values of serum calcium (P<0.05) and 24 hour urinary calcium (P<0.001) in the RN group. Parathyroid hormone (PTH) and AP were also higher in the RN group (P<0.01), whereas serum 25OH-D3 was lower (P<0.01). BMD, T and Z scores were lower in the RN group in both the lumbar (P<0.01) and hip (P<0.05) regions. Conclusions. Young male patients with hypercalciuric RN have lower BMD and higher bone turnover. Higher PTH levels related to vitamin D deficiency may contribute to bone demineralization in certain cases.

Introduction. Antioxidants and unsaturated fatty acids have protective effects in obesity. Aim. We investigated the benefits of Omega-3 fatty acids associated with antioxidant vitamins in obese children. Magnesemia and calcemia were observed in relation with other metabolic parameters, before and after the treatment. Materials and methods. 60 obese children were compared with 35 normal weight children. Each obese child received daily, one pill, containing: 130mg docosahexaenoic acid, 25mg of eicosapentaenoic acid, vitamin A 200μg, vitamin D 1,25μg, vitamin E 2,5mg and vitamin C 30mg for three months. All the participants were instructed not to change their lifestyle. Results. The serum values for these minerals and for 25(OH) vitamin D were lower in obese children. The obese children had insulin resistance (HOMA-IR) and an imbalance of serum adipocytokines. In obese children, the body mass index was negatively correlated with calcemia (r=-0.34) and serum 25(OH) vitamin D (r=-0.33). The HOMA-IR was negatively correlated with magnesemia (r=-0.34) and serum adiponectin (r=-0.29). The treatment improved the mineral serum level, the insulin sensitivity and the adipocytokines levels. Conclusion. In obese children, the intake of Omega-3 fatty acids associated with antioxidant vitamins, for three months improved calcemia and magnesemia and increased insulin sensitivity.

Introduction. Primary osteoporosis during childhood and adolescence represents an uncommon condition, and secondary forms are more likely to manifest at this age due to chronic disease and adverse effects of medical treatment. Case report. The authors report the case of a young male patient with a history of multiple idiopathic nonvertebral fragility fractures in addition to a family history of maternal osteoporosis and fracture, in whom osteoporosis was confirmed according to 2013 International Society for Clinical Densitometry (ISCD) criteria. Bone markers indicated low bone formation marker osteocalcin. Genetic testing revealed homozygosity for Sp1 COL1A1 gene polymorphism in combination to Fok-I vitamin D receptor (VDR) heterozygous polymorphism, to contribute to low bone mass and increased fracture risk. Severe premenopausal osteoporosis was present in the patient’s mother, who was also tested positive for both gene polymorphisms. Conclusion. This case report highlights the association between COL1A1 and VDR candidate gene polymorphisms and fragility fractures in a family. Individual genetic testing might be of clinical value in idiopathic osteoporosis in young patients, identifying subjects at increased fracture risk.

The most common cause of hypercalcemia is parathyroid hyperplasia and carcinoma. Tuberculosis(TB) and sarcoidosis are the most common granulomatous diseases of the parathyroid. We report a case of parathyroid adenoma that can mimic many lesions. A 46-year-old woman on continuous ambulatory peritoneal dialysis (CAPD) with symptoms and signs of hypercalcemia. Laboratory findings were consistent with tertiary hyperparathyroidism. She underwent elective parathyroidectomy due to high PTH values despite effective treatment including calcimimetics and vitamin D receptor activators. Subtotal thyroidectomy and three and a half of parathyroid adenomas were removed. Histopathological examination revealed features of parathyroid adenoma with granulomatosis infection that supports tuberculosis. In order to confirm the pathological findings, the PCR study was performed on the pathology specimens. After obtaining a negative result, the treatment was stopped. We have reported a case of parathyroid adenoma that mimicking tuberculosis.

Objective. Graves' orbitopathy (GO) is an autoimmune inflammatory disorder characterized by proptosis, diplopia, and extraocular motility restriction. Intravenous glucocorticoids (IVGC) are the mainstay of treatment in active moderate-to-severe GO; however, some patients require additional therapy. This study compared the clinical outcomes of IVGC alone and in combination with orbital radiotherapy (RT) or mycophenolate mofetil (MMF). Methods. Forty patients with active moderate-tosevere GO (Clinical Activity Score ≥3) treated between 2015 and 2023 were included. Patients were grouped as IVGC monotherapy (n=24), IVGC+RT (n=8), and IVGC+MMF (n=8). Outcomes included CAS, proptosis (Hertel exophthalmometry), diplopia, and motility restriction at baseline and 6 months. Results. CAS significantly decreased in all groups (p<0.001). A ≥2-point reduction in CAS was observed in 91.7% of the IVGC group and in all combination therapy groups (p=1.000). Proptosis reduction ≥2 mm occurred in 57.1%, 100%, and 71.4% of patients in the IVGC, IVGC+RT, and IVGC+MMF groups, respectively (p=0.534). No statistically significant differences were detected in diplopia or motility outcomes between treatment groups. However, these findings should be interpreted cautiously given the limited sample size and unequal group distribution. Conclusion. IVGC effectively reduces disease activity in active moderate-to-severe GO. Although combination therapies showed numerically favorable trends in some outcomes, the retrospective design, unequal treatment allocation, and limited sample size preclude definitive conclusions regarding comparative efficacy between treatment strategies. Larger prospective studies are warranted to better delineate the role of combination approaches in active moderate-to-severe GO.