ACTA ENDOCRINOLOGICA (BUC)

Thyrotoxicosis crisis is a major emergency due to the brutal occurrence and\r\nexacerbation of untreated or inadequately treated hyperthyroidism. It has uncharacteristic\r\nsigns all of which require immediate treatment. Thyroid hormones may directly influence\r\nmyocardial oxygen supply and demand and cause a critical imbalance resulting in angina\r\npectoris and myocardial infarction. We present a case patient with a fatal myocardial\r\ninfarction (MI) secondary to thyrotoxicosis. The patient presented classical coronary risk\r\nfactors and unknown hyperthyroidism, which was taken into consideration as a possible\r\ncause of the acute coronary syndrome. Although he was under anti - ischemic agents and\r\ndespite normal coronary arteries he developed MI and cardiogenic shock and died due to\r\nthyroid storm aggravated by iodine contrast and catecholamine agents.

Objective. ARMC5 mutations are responsible for the development of primary bilateral macronodular adrenal hyperplasia (PBMAH). In this study, we aimed to report a novel ARMC5 germline variant in a PBMAH patient family. Method. CT examination and dexamethasone suppression test (DST) were used in the diagnosis of PBMAH. Sanger sequencing was used to validate the familial heredity. For the novel variant, protein predictive analysis was performed to study the changes of secondary and tertiary structures and hydrophobicity. Results. A 45 years old male (proband, III-1) was diagnosed as PBMAH. Whole-exome sequencing (WES) was performed, finding one mutation: c.719_ 724dup, p Arg240_ Pro241dup. Sanger sequencing showed the II-2, III-1, IV-1 with heterozygous gene, confirming the familial heredity. For protein predictive analysis, the predicted secondary structure of variants has one alpha–helix structure incomplete compared with normal ARMC5. The tertiary structure could draw the same conclusion, that hydrophobicity decreases after mutation. Conclusion. We reported a new-found ARMC5 germline variant in PBMAH using WES and protein predictive analysis. With the help of WES, early diagnosis of PBMAH could help variant carriers to prevent the occurrence of cancer by lifetime follow-up.

Introduction. McCune-Albright syndrome (MAS) is a noninherited, genetic condition defined by the clinical triad: polyostotic fibrous dysplasia (FD), café-aulait skin spots and different hyper functioning endocrinopathies. Case presentation. The patient, a 39-year-old female previously diagnosed with MAS, presented with severe, left-sided skeletal pain and accentuated asymmetrical facial features. Although there were no clinical signs (except type II diabetes) the hormonal dosages revealed GH hypersecretion and ACTH-independent hypercortisolism. The modified bone anatomy rendered the surgical adenomectomy impossible, whereas radiotherapy was not an option due to the increased risk of sarcomatous transformation of FD; therefore somatostatin analogues were used. Cushing syndrome was cured by left adrenalectomy. For the facial dysmorphism, surgical cure was proposed. CT revealed a pituitary microadenoma, severe craniofacial hyperostosis and left-side macronodular adrenal hyperplasia. Conclusion. We report the case of an adult female with MAS associating both acromegaly and Cushing syndrome, the MAS-Cushing syndrome association having been identified only in children up to present. The setting of a therapeutic strategy in these cases is difficult determined by the multiple concomitant tissue damage and by the limited number of therapeutic options available, not only for acromegaly, but also for pain management and the cure of bone deformities.

Objectives. To assess the effects of electroacupuncture (EA) at the Zusanli (ST36), Guanyuan (CV4), Zhongwan (CV12), and Fenglong (ST40) acupoints on sirtuin 1 (SIRT1) and glucose transporter type 4 (GLUT4) expression in high-fat diet (HFD)-induced insulin-resistant (IR) rats. Methods. Wistar rats were divided into normal control (NC), HFD, and HFD+EA groups. NC rats were fed a standard chow diet and did not receive EA. After being fed an HFD for eight weeks, rats in the HFD+EA group received EA at 2 Hz five times a week for eight weeks. Rats in the HFD group did not receive EA. Results. In HFD-induced IR rats, EA inhibited body weight increase and water intake, which were observed in HFD rats. EA had no effect on fasting blood glucose and postprandial blood sugar levels. Intraperitoneal insulin tolerance testing revealed that EA enhanced insulin sensitivity in HFD-induced IR rats. Compared with NC rats, SIRT1 and GLUT4 were downregulated in the quadriceps femoris of HFD-fed rats but were increased after eight weeks of EA stimulation. Conclusions. EA enhanced HFD-induced insulin resistance by activating SIRT1 and GLUT4 in the quadriceps femoris. These results provide powerful evidence supporting the beneficial effects of EA on HFD-induced insulin resistance.

Background. There are scarce data about prevalence of mineral metabolism (MM) disorders in Romanian predialysis patients, so we assessed their occurrence and relationships in mild to severe chronic kidney disease (CKD). Methods. One hundred fifteen non-dialysis CKD (eGFR 31, 95% CI 29-35mL/min) and 33 matched non-CKD subjects entered this multicentric, cross-sectional study. Serum 25-hydroxyvitamin D (25OHD), intact parathyroid hormone (iPTH), phosphate (PO4), total calcium (tCa) and alkaline phosphatase (AP) were measured, along with demographic and past medical history data. Results. Hypovitaminosis D was equally prevalent in Controls and CKD (91% vs. 96% had 25OHD<30ng/mL). Increasing proportions of hyperparathyroidism (33% - stage 2 to 100% - stage 5; p<0.001) and hyperphosphatemia (2% - stage 3 to 38% - stage 5; p<0.001) were found. Hypocalcemia was more prevalent in stage 5 (25% vs. 6% in stage 4, none in stage 3 and Controls, p<0.001). Mineral metabolism parameters correlated with eGFR. In addition, iPTH was directly associated with PO4, AP, and urinary albumin-tocreatinine ratio (ACR), but inversely with tCa and 25OHD, while negative correlation of 25OHD with age, AP, ACR, and C-reactive protein emerged. In multiple regression, eGFR was the only predictor of iPTH (Beta -0.68, 95%CI -1.35 to -0.90, R2 0.46, p<0.001), whereas age and ACR were the determinants of 25OHD (a model which explained 14% of its variation). Conclusions. Hypovitaminosis D was very common irrespective of CKD presence and severity, and it seems worsened by older age and higher albuminuria. Hyperparathyroidism preceded hyperphosphatemia and hypocalcemia, and it seems mostly dependent on kidney function decline

Background. Cerebral vein and sinus thrombosis (CVT) is less encountered, compared to arterial stroke. Commonly witnessed symptoms are headache, nausea, vomiting, confusion, aphasia, seizures, cranial nerve dysfunction and motor or sensorial deficits. The diagnosis is accurately determined by the help of MRI and MR venography. Multiple risk factors associated with CVT are present. Venous thrombosis tends to occur when there is an imbalance between prothrombotic and thrombolytic processes.\r\nCase report. In this report, a patient with CVT extending from left transverse and sigmoid sinuses to jugular vein and diagnosed with diabetes mellitus (DM) during this period\r\nwas discussed in light of literature. The 55-year-old man was evaluated in the neurology clinic with the complaints of headache, nausea, vomiting and blurred speech. On neurologic examination, he was diagnosed with sensorial aphasia and consequently, with DM over the hospital stay. On the cranial MR venography, CVT thrombosis was detected, extending from transverse and sigmoid sinuses to internal jugular vein. Decreased level of protein C and shortage of aPTT were\r\nfound. Anticoagulant treatment was carried out. All complaints were improved.\r\nConclusion. In our subject, the existence of decreased protein C and shortage of APTT, along with DM, is a situation to increase hypercoagulability and the risk of cerebral vein and sinus thrombosis.

Glycemic control can be impaired in active acromegaly and insulin sensitivity (IS) decreases with rising growth hormone (GH) levels.\r\nAim. To assess the short-term impact of transsphenoidal surgery for acromegaly on glycemic control. Methods. 11 patients with native active acromegaly due to pituitary macroadenoma were assessed before and after (2-3 months) transsphenoidal hypophysectomy. Serum glucose, GH and insulin levels were measured by immunoradiometric assay at 0, 30, 60 and 120 minutes during a 75 g OGTT before and after surgery. IGF-1 levels were measured by ELISA. Basal hepatic IS was assessed using HOMA-S% and QUICKI indexes and stimulated IS using OGTTISI. Basal and stimulated insulin secretion was assessed using HOMA-B% index and IGI respectively. Results. All patients had their acromegaly improved (mean?SD pretreatment nadir GH 34?24.7 ng/mL vs. 4.6?3.5 ng/mL postsurgery; p<0.001) but only one was cured (nadir GH<1 ng/mL, normal IGF- 1 level). Mean fasting serum glucose was lowered by 7.9 mg/dL (95% CI 1.3-14.4, p=0.03) and fasting serum insulin by 9.6 mU/mL (95% CI 1.0-18.1, p=0.02). IS increased after surgery as shown by HOMA-S% index which rose 0.25?0.18 to 0.5?0.36 (p<0.01), QUICKI which rose form 0.31?0.03 to 0.33?0.03 (p=0.001) and OGTTISI index which rose from 2.5?1.6 to 5.1 ? 3.5 (p=0.002). Insulin secretion was unchanged as shown by HOMA-B% index (313?229 presurgery vs. 227?139 postsurgery, p=NS) and IGI index (0.96 ? 0.86 presurgery vs. 0.55 ? 0.49, p=NS). Conclusions. Partial removal of the pituitary adenoma by transsphenoidal surgery in patients with acromegaly induces a significant increase in insulin sensitivity and an improvement in glycemic control at 3 months after surgery. This suggests that transsphenoidal surgery should be indicated even if complete removal of the pituitary adenoma is not achieved.

Background. Hashimoto thyroiditis (HT) is an autoimmune disease and the most common cause of hypothyroidism. The widespread lymphocyte infiltration in the thyroid gland and intolerance of the body against its thyroid antigens leads to the destruction of thyroid cells and impaired thyroid function. Granulysin (GNLY) is a cytolytic antimicrobial peptide that has been associated with a wide range of diseases such as various infections, cancer, transplantation, and skin problems. However, there are a few studies investigating the relationship between HT and granulysin. Aim. Our study aims to investigate whether granulysin levels and GNLY gene polymorphism contribute to the damaged immune response leading to HT. Material and Methods. 100 unrelated patients diagnosed with HT and 140 healthy individuals were included in our study. Frequencies of GNLY rs10180391 and rs7908 gene polymorphisms were determined using PCR- RFLP method and serum granulysin levels were determined using ELISA. Results. There is no statistical significance between patient and control groups in terms of genotype and allele frequencies of GNLY gene polymorphisms and serum levels of granulysin. Conclusion. In conclusion, granulysin and GNLY gene polymorphisms do not appear to relate to HT disease.

Context. Tumors associated with thyroid gland are relatively rare. Papillary thyroid cancer (PTC) represents the most\r\nfrequent thyroid neoplasm, and it has almost in all of the cases favorable prognosis. In the largest number of the cases, PTC remains within the thyroid gland or it gives the\r\nlymphogenic metastasis in the cervical lymph nodes and, extremely rare, it results in hematogenic metastasis.\r\nObjective. To present a case of a patient who had a distant secondary deposit in pelvic bone and sacral bone as a first sign of the PTC.\r\nSubjects and Methods. A 56 year old male was presented in this report.\r\nResults. After intensive hip pain, patient was diagnosed with osteolytic lesion in sacral and left pelvic bone. After aspiration biopsy, macroscopic analysis and imunohistochemistry, diagnosis of PTC was set. Patient has undergone total thyroidectomy, two doses of radioiodine\r\nwere applied and secondary deposit palliative radiotherapy as well.\r\nConclusions. The total thyroidectomy is the first line therapy in the PTC patients for primary tumors, while the therapy for the secondary deposits requires surgical\r\nprocedures combined with other means of treatment.

Context. Vitamin D plays a crucial role in calcium metabolism through parathormone-dependent process. Deficiency of this important nutrient may be associated with hypocalcemia after thyroidectomy. Objective. To evaluate the role of vitamin D in predicting hypocalcemia following total thyroidectomy. Subjects and Methods. One hundred and fifty patients who underwent total thyroidectomy for benign or malignant thyroid disease were included in this prospective study. The association between preoperative vitamin D status and the development of hypocalcemia were investigated. Results. Biochemical and symptomatic hypocalcemia were found in 28 (18.7%) and 22 (14.7%) patients, respectively. Preoperative vit D level was found significantly lower in patients with biochemical (p = 0.006) and clinical (p < 0.001) hypocalcemia in comparison to normocalcemic patients. The patients who had <10 ng/mL vit D level (severe deficiency) developed significantly more biochemical and clinical hypocalcemia than the patients with serum vit D level higher than 10 ng/mL (p = 0.030 and p < 0.001, respectively). Conclusions. Although postthyroidectomy hypocalcemia is multifactorial, vit D deficiency, particularly severe form, is significantly associated with the development of biochemical and clinical hypocalcemia. Vit D supplementation can prevent this unwanted complication in such patients.