ACTA ENDOCRINOLOGICA (BUC)

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.

Background Supplementation of Lcarnitine is associated with improvement in some abnormalities present in hemodialysis (HD) patients. Objective. The study aim was to analyze the effect of oral L-carnitine supplementation on endothelial dysfunction (ED), oxidative stress (OS), inflammation and anemia in HD patients. Design. A prospective, longitudinal and observational study was performed in a single dialysis unit. Subjects and methods.We studied 31 HD patients: 21 patients formed the Lcarnitine supplementation group (group 1) and 10 entered the control group (group 2). At baseline and after 3 months of L-carnitine supplementation (500mg/day) we determined endothelial-dependent flow-mediated vasodilatation (FMD) and nitroglycerin induced endothelium independent vasodilatation, involving ultrasonographic brachial artery measurements, serum visfatin, malondialdehyde, body mass index, systolic blood pressure, diastolic blood pressure, interdialytic body weight gain, C-reactive protein, albumin, cholesterol, HDL-cholesterol, LDL-cholesterol, triglycerides, ferritin, transferrin saturation, hemoglobin, erythropoietin dose, calcium (Ca), phosphorus (P), parathormone and Kt/V . Results. In group 1, FMD (8.9 (4.5-12.5) to 10.6 (6.7-18), p=0.04) and Ca (8.4±0.6 to 8.8±0.5 mg/dL, p<0.001) significantly increased after L-carnitine supplementation, while visfatin (1.0 (0.2-1.3) to 0.4 (0-0.9) pg/mL, p=0.03), malondialdehyde (2.8 (2.4- 3.2) to 1.3 (1.2-1.5) nmol/mL, p<0.001) and P (5.6±1.3 to 5.0±1.2 mg/dL, p=0.005) significantly decreased. Albumin increased significantly in both groups (3.9±0.3 to 4.2±0.3 mg/dL, p<0.001 in group 1 and 3.7±0.3 to 4.0±0.3 mg/dL, p=0.02 in group 2). There were no other significant variations of the studied parameters. Conclusions. L-carnitine supplementation reduces ED, visfatin levels and markers of OS, but has no effect on inflammation, nutrition and anemia in HD patients.

Objective. Highly active antiretroviral therapy (HAART) is involved in the potential pathogenic mechanisms linking thyroid autoimmunity with immune restoration. The objective is to emphasize the emergence of autoimmune thyroid disease in a HIV patient long period after restoration of immune competence, unlinked to the immune reconstitution inflammatory syndrome (IRIS) occurring shortly after HAART initiation. We report a case of acute autoimmune thyroiditis with thyrotoxicosis in a patient with stage C3 HIV infection, who had been under HAART for more than 7 years. From the beginning there was a good immune response to the regimen, due to a good adherence and compliance (over 90%). Nine months after HAART initiation the viral load was undetectable (under 34 copies/μL) and the CD4 count reached 645 cells/mm3 (within normal range) after one year of treatment. Eight years after HAART initiation, based on clinical and laboratory findings, autoimmune thyroiditis was diagnosed. At this time immune competence with a normal CD4 count and a CD4/CD8 ratio over 1 was achieved. The chronic inflammation status of an HIV infection is the reason that autoimmunity appears outside the IRIS period. Treatment was initiated with antithyroid drugs. Thyroid function should be monitored periodically in HIV patients undergoing HAART. Future observations must be made for HIV related thyroid disorders using new classifications and studies with a larger number of patients.

Abstract Objective. The aim of the present study is to evaluate the effects of methimazole (MTZ) and propylthiouracil (PTU) treatments on osteopontin (OPN) and oxidative stress in Graves’ disease (GD). Material and Methods. The study included 60 cases with GD in hyperthyroid state and taking no antithyroid treatment, and 30 healthy volunteers. GD patients were randomly separated into two groups; 30 of them took PTU, and the other 30 took MTZ treatments. Blood samples were taken from the patients with GD before the treatment, and three months after the treatment was begun, when they were in the euthyroid state; blood samples of the healthy control subjects were also taken at these times. Results. TAS and OSI levels before treatment were significantly higher in the GD group, when compared to the control group (p<0.001, for each). GD subjects taking PTU treatment had significantly higher TAS levels (p=0.001), and significantly lower TOS and OSI levels (p=0.008 and p=0.001, respectively). TAS levels significantly decreased in the patients taking MTZ treatment (p=0.029), but TOS and OSI levels did not change significantly (p>0.05). Pretreatment OPN levels were significantly higher in GD patients, when compared to the control group (p=0.014). OPN level significantly decreased in the GD group taking PTU treatment; however OPN levels in the group taking MTZ treatment did not change significantly when compared to the pretreatment value. Conclusion. PTU treatment is more effective in decreasing OPN and oxidative stress in GD patients, when compared to the MTZ treatment.

Background. Mixed gonadal dysgenesis is a disorder of sex development associated with a numerical or sex chromosome abnormality. There is no association between the degree of mosaicism and the phenotype. Case report. An 11 years old girl was admitted for excessive weight [BMI: 31.55 kg/m2 (+ 3 SD)]. The family medical history was positive for overweight and obesity, type 2 diabetes mellitus, but no evidence of gonadal disorders or infertility was found. Physical examination revealed Turner Syndrome stigmata, acanthosis nigricans, excessive adipose tissue, normal female type external genitalia, Tanner pubertal stage 0. Even though the patient’s main complaint was the excessive weight, the most striking feature was the short stature. Further evaluation showed decreased IGF-1 level, delayed bone age, GH deficiency and Impaired Glucose Tolerance. The genetic analysis performed showed 45, X0 (20%)/ 46, XY (80%) karyotype with positive SRY gene. The histopathological examination of bilateral gonad biopsy confirmed the presence of ovarian hypoplastic tissue in the left gonad and ovarian tissue suggesting gonadoblastoma of the right gonad. Conclusion. Correct diagnosis and management of these patients needs a multidisciplinary team effort. The benefit of GH treatment therapy was demonstrated in the majority of 45, X0 / 46, XY short stature patients.

Background. Sweet's syndrome (SS) or acute febrile neutrophilic dermatosis is a dermatological illness that can be described by tender erythematous plaques or nodules and acute onset fever. The etiology is multifactorial and is not fully understood. SS is separated in three subclasses: classical, malignancy-associated, and drug-induced. It was shown that this syndrome can reveal an underlying hematological or solid malignancy. Case presentation. We report the case of a 55-yearold female patient referred to the Urology department for management of pheochromocytoma in the right adrenal gland, revealed by abdominal imaging in another medical unit during the evaluation and diagnosis of multiple mucocutaneous lesions, characterized by erythematousviolaceous plaques and nodules, and painful aphthous ulcers of the tongue. The eruption of each lesion was preceded by low-grade fever and chills. The hormonal profile highlighted the presence of elevated normetanephrines. We performed 3D laparoscopic transperitoneal right adrenalectomy after preoperative treatment with alpha blocker therapy. The clinical outcome was favourable, given that the cutaneous lesions started to heal after the surgery. Conclusions. Sweet’s syndrome in association with pheochromocytoma is a very rare condition, only few cases were described in literature to our knowledge. The multidisciplinary collaboration is extremely important in the management of such cases.

Context. Spontaneous muscle infarction is a rare complication of diabetes mellitus, mainly affecting women and patients with long-lasting type 1 diabetes. Objective. This report is aimed to describe the case of a patient with type 1 diabetes and diabetic nephropathy in whom a severe deterioration of renal function was triggered by a muscle infarction. Subject and Methods. Subject of the study was a 33-years-old woman with an 18 years history of type 1 diabetes mellitus, proliferative diabetic retinopathy, nephropathy at stage 3 chronic kidney disease, somatic sensory-motor polyneuropathy and autonomic neuropathy. Results. The patient presented with severe pain and dysfunction of the left thigh without prior trauma plus progressive deterioration of the renal function. Nuclear magnetic resonance of the thigh showed inflammatory changes in the external vastus with hyperintensity on T2 sequence and edema of the subcutaneous cellular tissue. After other possible etiologies were ruled out, a clinical diagnosis of spontaneous muscle infarction was established. The patient needed hospital admission for two months, during which the renal function worsened until she required hemodialysis. No other possible triggers of kidney injury were identified. Conclusions. Up to our knowledge, this is the first described case where muscle infarction is suspected to have caused exacerbation of an existing chronic kidney failure. Monitoring the renal function should be considered in patients with diabetic nephropathy presenting with this rare complication of diabetes.

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.

Context. Physical activity is important for the management of metabolic functions; however, little is known whether performing home-based moderate-intensity exercise (MIE) obtains further improvement on metabolic functions in adults with non-communicable diseases (NCDs) who already perform regular gym-based MIE. Objective. The purpose of this study was to examine the effect of adding home-based MIE on metabolic functions in older adults with NCDs who have regularly performed gym-based MIE. Design. This was a single-center randomized controlled study. The observation period was set for 24 weeks. Subjects and Methods. Twenty-one older adults (age, 60–79 years) with uncomplicated NCDs, who have performed 30–40 min MIE, 2–3 days/week at a hospital gym for over 1 year, were randomly divided into two groups: performing home-based MIE, comprising aerobic and resistance exercises, at least 20 min/day, 3 days/week (HOME, n = 11), or not performing home-based MIE (CON, n = 10). All participants completed the study and continued their gym-based MIE as usual. Results. After 24 weeks, there were no significant differences in the values of any outcomes. Conversely, the decrease in waist circumference (WC) was larger in the HOME group (–2.17 [–3.98, –0.36] cm) than in the CON group (0.57 [–1.42, 2.56] cm) (p < 0.05), although not in other outcomes. Conclusions. Although further studies are needed, we found that adding home-based MIE had a positive effect on WC, but little effect on other metabolic functions in older adults with NCDs who have continued regular gym-based MIE.