ACTA ENDOCRINOLOGICA (BUC)

Triple A syndrome is an autosomal recessive inherited multisystem disorder that was first described in 1978. Triple A syndrome has a high genotypic and phenotypic heterogeneity and has been linked with mutations in the AAAS gene, which has been identified on chromosome 12q13. A 14 years old male patient applied to outpatient clinic complaining of weakness and darkening of skin color since 4 months. On physical examination hyperpigmentation was observed on both the skin and mucosa. The morning cortisol level was 1.8 μg/dL and ACTH was >1250 ng/L. Schirmer test showed absence of tears. In the patient’s esophagoscopy, mucosal paleness and stenosis of the cardia were observed. Molecular genetic analysis of AAAS gene confirmed the diagnosis of triple A syndrome caused by homozygous mutation: c.1368_1372delGCTCA (p.Gln456HisfsTer38). This variant is considered to be a possible pathogenic because it causes a frame shift that changes the protein structure. As a result of the genetic analysis of the patient’s parents, the AAAS gene was detected as heterozygous in both parents for the c.1368_1372delGCTCA mutation. To the best of our knowledge, this is the first report of homozygous mutation: c.1368_1372delGCTCA (p.Gln456HisfsTer38).

Objective. Type 2 diabetes mellitus (T2DM) is a major health problem worldwide. Earlier studies have reported that pancreatic fat content (PFC) and liver fat content (LFC) are risk factors for T2DM. The aim of the present study was to demonstrate the relationship between PFC, LFC and T2DM. Methods. A total of 70 T2DM subjects and 30 nondiabetic volunteers who underwent Dixon-based magnetic resonance imaging (MRI) method at Yixing People’s Hospital between December 2018 to December 2020 were included in the study. The three-point Dixon (3p-Dixon) method was used to measure the fat content in the pancreas and liver. Clinical indices including gender, age, body mass index (BMI), total cholesterol, triglyceride, glucose and C peptide levels were collected. The association between PFC, LFC, and OGTT-derived parameters was examined by Pearson and Spearman correlation analyses. Results. T2DM subjects had higher PFC and LFC than those measured in the non-diabetic subjects (p <0.05). PFC and LFC were associated positively with OGTT-derived parameters such as insulin secretion, insulin resistance, and early- and late-phase insulin secretion in the male T2DM subjects(p <0.05), but not in the non-diabetic and female T2DM subjects. The relationship between PFC and OGTTderived parameters was also more obvious than that for LFC in overweight and obese male patients with T2DM whose BMI was >24 kg/m2. Conclusion. PFC and LFC were both associated with β-cell dysfunction and insulin resistance in males with T2DM. The relationship between PFC and β-cell dysfunction and insulin resistance was more obvious than that observed for LFC in overweight and obese male T2DM patients. More attention should therefore be paid to PFC in clinical settings.

Background. The study included 505 patients, including 190 healthy controls, 166 euthyroid Hashimoto's thyroiditis (HT), 91 hypothyroid HT, and 58 nonimmunogenic hypothyroidism (NIH) patients. The records of the patients in each group were reviewed retrospectively. Objectives. The objective of this study was to evaluate the Systemic Inflammation Index (SII), Platelet to Lymphocyte Ratio (PLR), and Neutrophil to Lymphocyte Ratio (NLR) in HT and NIH, as well as their diagnostic value to predict the presence of inflammation. Results. In terms of SII, there was a significant difference between the control and patient groups (p<0.001). PLR and NLR values were also found to be significantly higher in the patient group (p<0.001 and p=0.007, respectively). When euthyroid HT, hypothyroid HT, and NIH subgroups were compared to the control group, there was a significant difference in SII, PLR (for all p<0.001), but not in NLR (p=0.059). SII, PLR, and NLR were not different between the subgroups (p=0.595, p=0.861, and p=0.777, respectively). Conclusion. It was found that the PLR, NLR, and SII indices were higher in Hashimoto’s thyroiditis and non-immunogenic hypothyroidism. Of these indices, SII was the most powerful marker to predict the presence of inflammation.

Context. Red cell distribution width (RDW) has been associated with type 2 diabetes (T2DM), however data in relation to diabetic ketoacidosis (DKA) and hyperglycemic hyperosmolar non-ketotic acidosis (HONK) remains unclear. Objective. The aim of this study was to evaluate the association between RDW, MCV, and RDW/MVC values and acute complications in T2DM. Patients and Methods. RDW was measured in 90 T2DM patients (30 DKA, 30 HONK and 30 T2DM without acute complications). Clinical variables were analyzed by One –Way ANOVA, Kruskal-Wallis and Pearson analysis with SPSS software. Diagnostic screening tests and ROC curve analysis determined the cut-off point of MCV,RDW and RDW/MCV values. Results. DKA patients had higher levels of plasma glucose (524.20±201.43mg/dL, p<0.001), HbA1c (10.73±2.29%, p<0.001), osmotic pressure (310.32 mosm/L, p<0.001), RDW (14.61±1.75g/L, p<0.01), and the RDW/MCV ratio (0.17±0.04%, p<0.01), compared to HONK patients. RDW/MCV cut-off value was 0.15 with 90% sensitivity 50% specifity these values for only MCV were 76.67%-70%, for only RDW were 76.67%- 63.33% respectively. The area under curve values for the ability to reflect DKA for RDW and the RDW/MCV ratio were 0.708 and 0.766, respectively (p<0.001). Conclusions. RDW and RDW/MCV ratio were found associated with DKA and valuable in predicting DKA. However these parameters were not valuable in predicting HONK.

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.

The conventional treatment of hypoparathyroidism consists of vitamin D analogues in combination with oral calcium\r\nsupplementation. This treatment modalities induce chronic hypercalciuria which leads to nephrocalcinosis, nephrolithiasis and renal insufficiency. Here we report the case of a 32-year-old woman who developed hypocalcemia and hypercalciuria under treatment with high doses of vitamin D\r\nanalogs and oral calcium. She had cerebral calcification, nephrocalcinosis under this treatment. Stable calcium levels were achieved with synthetic human parathyroid hormone treatment that was given in alternate days. PTH appears to be an alternative and effective treatment in hypoparathyroidism.

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