ACTA ENDOCRINOLOGICA (BUC)

Aim. Histology and cytology consultations of thyroid fine needle aspiration biopsy (FNAB) of thyroidectomy specimens can change management of the patient. We aimed to determine compliance rates of pathology results between urban centers and a tertiary institution and its impact on patient management.\r\nMethods. This retrospective study includes 101 patients, who were referred to our center, between January 2008 and December 2008. After admission, all FNAB or thyroidectomy specimens of patients managed elsewhere were consulted by the pathology department. Comparison of FNAB and histology reports of our institution and the medical centers elsewhere had been carried out.\r\nResults. A total of 76% concordance rate was found between the FNAB results of other centers and consultation results. The highest concordance was observed in the malignant cytology group (77%). The cytological or histological outcomes of 24 (23.7%) patients were interpreted differently. After second opinion, patient management\r\nchanged in 21 of the 101 patients.\r\nConclusion. Since FNAB results can change the type of surgical treatment and the management plan, the results especially reported as suspicious may need a second\r\nopinion. We suggest that cytology or histology results of thyroid patients referred to tertiary centers for further evaluation and treatment should always be reviewed.

Background. Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. Case study. This case is a 5-year and 11-monthold female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. Conclusion. The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.

Context. Minimally invasive parathyroidectomy (MIP) procedure has become a widely accepted alternative to the standard four-gland exploration nowadays. Objective. The aim of this study was to evaluate patients with primary hyperparathyroidism (PHPT), who had been treated with thyroidectomy and bilateral neck exploration (BNE), rather than MIP alone, due to coexisting thyroid nodules and to determine the benefits of simultaneous thyroidectomy and the possible negative outcomes of not performing this additional procedure. Design. There were 185 patients who were operated for PHPT at our clinic from January 2014 to November 2016. Subjects and Methods. 50 patients meet inclusion criteria: have thyroidectomy at the same time of parathyroid surgery, have concordant findings of parathyroid adenoma localization at preoperative MIBI-SPECT and the cervical US and have not had malignancy on fine needle aspiration biopsy (FNAB). Results. The mean age of the patients was 55.3±10.4, and female to male ratio was 7:1. All patients had parathyroidectomy with BNE and thyroidectomy: 11 (22%) patients had micropapillary thyroid cancer (mPTC), 2 (4%) had papillary thyroid cancer (PTC). Conclusion. The results were inconclusive in clearly demonstrating which patients presenting with coexisted thyroid nodules should undergo thyroidectomy, rather than MIP, and which should be monitored for thyroid nodules after MIP. However, we consider that in cases who are not clearly indicated for thyroidectomy, MIP followed by monitoring of thyroid nodules can be the treatment approach.

COVID-19 is a viral disease that is recognized now as a pandemic by the World Health Organization. It is known that some viral infections may trigger autoimmune diseases. It has been revealed that COVID-19 may also lead to the pathogenesis of some autoimmune diseases, including Type 1 DM (T1DM) and autoimmune thyroid diseases. Here, we aimed to present a young female patient with COVID-19, who we followed up in our clinic, who presented with diabetic ketoacidosis (DKA), and developed Hashimoto’s disease during the treatment process. In order to emphasize that COVID-19 may trigger the emergence of T1DM, that it may mask nonspecific DKA symptoms like nausea and vomiting, that it may cause delay in diagnosis of DKA, and also to emphasize the importance of evaluating other autoimmune diseases accompanying COVID-19, we found it appropriate to present this case.

Diabetic ketoacidosis (DKA) is a common medical emergency situation. In rare cases, glycemic changes associated with the menstrual cycle may create a predisposing factor for DKA. In the absence of facilitating factors that may cause DKA, catamenial DKA should be considered. In the patients with catamenial DKA, increasing the insulin dose 1-2 days before menstruation may prevent the development of hyperglycemia or DKA associated with menstrual cycle. In this study, we present a 21-year-old female with type 1 diabetes mellitus (DM) that recurrently applied to our hospital due to DKA a few days prior to menstrual bleeding.

Background. Iodine deficiency and/or thyroid autoimmunity are the most common causes of hypothyroidism development among pregnant women. In this study, we aimed to investigate the effect of iodine consumption and thyroid autoimmunity on TSH levels and abortus. The study sample consisted of 104 patients, 79 in abortus and 25 in control groups. TSH, free T4, free T3, anti-TPO, anti-Tg, spot urinary iodine concentrations, and thyroid volumes of the cases were measured by ultrasonography. The spot urine concentration was below 100 μg/L in 93% of the cases included in the study. The TSH levels of the abortus group cases were significantly higher than those of the controls (p=0.025). The percentage of subclinical hypothyroid cases were significantly higher among the cases evaluated due to abortus compared to the control group (p<0.001). Abortus and control groups did not differ statistically with respect to the presence of autoimmune thyroid diseases (p=0.424). Spot urine iodine concentrations of abortus cases with subclinical hypothyroid were significantly lower than those with TSH levels below the defined range (p=0.001). Spot urine iodine concentrations of the cases with subclinical abortus with negative thyroid autoantibodies were also significantly lower than those with TSH levels below the defined range (p=0.017). TSH levels above 1 μIU/mL for the first trimester and 2 μIU/mL for the second trimester may be indicators of iodine nutrition in pregnancy losses.

Objective. This study was undertaken to examine prognostic factors in patients with pancreatic neuroendocrine tumors (PNET) undergoing surgical treatment to evaluate the prognostic value of recently introduced immunohistochemical staining methods of CD10 and cytokeratin 19. Materials and Methods. Tumors were classified on the basis of 2004 WHO Classification Guidelines and European Neuroendocrine Tumor\r\nSociety (ENETS) grading system. Immunohistochemical staining with Ki- 67, CD10 and cytokeratin 19 was performed. Results. A total of 36 patients with a mean age of 53.7 ? 12.0 years were included. Overall, 33 patients had a long-term follow-up with 10 patients (30.3%) experiencing recurrence. Seven\r\npatients (21.1%) died. Clinical parameters that were associated with recurrence included liver metastasis at the time of surgery and extra-pancreatic invasion (p < 0.005). Positive surgical margins, extra-pancreatic invasion, and multi-focal disease were associated with reduced survival (p < 0.05). In addition, there was an association between\r\nsurvival and WHO 2004 classification (p < 0.05).\r\nConclusions. Although vascular and peripancreatic invasion showed increased risk of recurrence, they were unrelated to survival. Of the histopathological examinations, Ki-67\r\nand mitotic activity showed a correlation with both recurrence and survival, while immunohistochemical\r\nstaining with cytokeratin 19 and CD 10 did not provide adequate prognostic information.

Background. HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia caused by mutation of the GATA3 gene. Case report. We describe a case of HDR syndrome diagnosed in a 46-yearold male patient. He had hand numbness, intermittent dizziness, and imbalance due to hypocalcemia. Physical examination was slim in appearance, had marfanoid features, and presented the typical apathetic face. He had a narrow rib cage and pectus excavatum deformity. Laboratory findings included serum calcium of 7.4 mg/dL, phosphorus of 4.87 mg/dL, albumin of 4.5 g/dL, intact parathormone (iPTH) of 13.3 pg/mL, 25(OH) D3 vitamin of 16.3 μg/L, daily urinary calcium excretion of 23.4 mg/day. Noncontrast computerized tomography (CT) of the brain showed bilateral basal ganglia calcification. Abdominal ultrasonography and CT showed the absence of renal tissue in the left kidney site and pelvis (left renal aplasia). Audiometry revealed mild sensorineural hearing loss at high frequencies. Conclusions. The patients with HDR syndrome are often diagnosed when they are examined for symptomatic hypoparathyroidism and deafness. To the best our knowledge, the present case is the second case of Barakat Syndrome reported from Turkey. The treatment of HDR syndrome is focused on clinical symptoms. The prognosis of the disease correlates with hypoparathyroidism and the severity of renal disease. HDR syndrome has an autosomaldominant inheritance, screening of family members is recommended for early diagnosis and treatment.